Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Array CGH for the detection of genomic copy number variants has replaced G-banded karyotype analysis. This paper describes the technology and its ...

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Neocentromeres &#x662F; noncentromeric &#x67D3;&#x8272;&#x4F53;&#x533A;&#x57DF;&#x5185;&#x5F62;&#x6210;&#x7F55;&#x89C1;&#x529F;&#x80FD;&#x7740;&#x4E1D;&#x7C92;&#x3002;&#x6211;&#x4EEC;&#x7684;&#x62A5;&#x544A;&#x4E2D;&#x975E;&#x5E38;&#x7F55;&#x89C1;&#x7684;&#x7C7B; II analphoid &#x67D3;&#x8272;&#x4F53; neocentromere &#x7684;&#x7ED3;&#x8BBA;&#x3002;&#x5728;&#x80CE;&#x513F;&#x67D3;&#x8272;&#x4F53;&#x6838;&#x578B;&#x4E2D;&#x4F18;&#x751F;&#x68C0;&#x6D4B;&#x6B64; neocentromere&#xFF1A; 47,XY,del(4)(p15.3q21.1),+r(4) (p15.3q21.1).ish del(4)(D4S3360+,WHS+,D4Z1-,4qsubtel+),r(4) (D4S3360-&#x3001; &#x5B9A;&#x7A3F;&#x3001; D4Z1 +&#x3001; 4qsubtel) &#x5FB7;&#x8BFA;&#x3002;&#x80CE;&#x513F;&#x7F3A;&#x5C11;&#x4E00;&#x4E2A;&#x6B63;&#x5E38;&#x67D3;&#x8272;&#x4F53; 4 &#x4F46;&#x73AF;&#x67D3;&#x8272;&#x4F53;&#xFF0C;&#x67D3;&#x8272;&#x4F53; 4 &#x548C;&#x4E00;&#x4E2A;&#x5DF2;&#x5220;&#x9664;&#x7684;&#x67D3;&#x8272;&#x4F53; 4&#xFF0C;&#x73AF;&#x5F62;&#x6210;&#x4E92;&#x60E0;&#x4EA7;&#x54C1; pericentromeric &#x533A;&#x57DF;&#x7EC4;&#x6210;&#x3002;&#x539F;&#x4F4D;&#x6742;&#x4EA4;&#x6280;&#x672F;&#x5EFA;&#x7ACB;&#x540C;&#x65F6;&#x72FC;-Hirschhorn &#x5173;&#x952E;&#x533A;&#x57DF;&#x548C;&#x67D3;&#x8272;&#x4F53; 4 &#x6742;&#x4EA4;&#x5730;&#x533A;&#x662F;&#x76EE;&#x524D;&#x5DF2;&#x5220;&#x9664;&#x7684;&#x67D3;&#x8272;&#x4F53;&#x4E0A;&#xFF0C;&#x67D3;&#x8272;&#x4F53; 4 pericentromeric &#x5F02;&#x67D3;&#x8272;&#x8D28;&#x4F4D;&#x4E8E;&#x4E0A;&#x73AF;&#x7684;&#x67D3;&#x8272;&#x4F53;&#x3002;&#x4E50;&#x961F; 4q21.2 &#x7684;&#x6307;&#x793A;&#x5728;&#x8FD9;&#x4E00;&#x6CE2;&#x6BB5;&#xFF0C;&#x5141;&#x8BB8;&#x5728;&#x7EC6;&#x80DE;&#x5206;&#x88C2;&#x671F;&#x95F4;&#x7A33;&#x5B9A;&#x9694;&#x79BB;&#x5DF2;&#x7ECF;&#x6210;&#x7ACB;&#x4E86; neocentromere &#x7684;&#x5DF2;&#x5220;&#x9664;&#x67D3;&#x8272;&#x4F53; 4&#xFF0C;&#x89C2;&#x5BDF;&#x5230; C &#x6CE2;&#x6BB5;&#x8D1F;&#x7F29;&#x7A84;&#x3002;&#x5728;&#x598A;&#x5A20; 20 &#x5468;&#x63D0;&#x51FA;&#x4E0E;&#x5BAB;&#x5185;&#x751F;&#x957F;&#x8FDF;&#x7F13;&#x548C;&#x5FC3;&#x8154;&#x80A0;&#x7EC6;&#x80DE; amniocytes &#x4E2D;&#x68C0;&#x6D4B;&#x5230;&#x8FD9;&#x79CD;&#x67D3;&#x8272;&#x4F53;&#x5F02;&#x5E38;&#x3002;&#x6000;&#x5B55;&#x5BFC;&#x81F4; 33-34 &#x5468;&#x65F6;&#x80CE;&#x513F;&#x5BAB;&#x5185;&#x6B7B;&#x4EA1;&#x3002;&#x5C3D;&#x7BA1;&#x8868;&#x9762;&#x4E0A;&#x6536;&#x652F;&#x5E73;&#x8861;&#x67D3;&#x8272;&#x4F53;&#x6838;&#x578B;&#xFF0C;&#x80CE;&#x513F;&#x5F88;&#x53EF;&#x80FD;&#x5DF2;&#x7ECF;&#x7531; neocentromere&#x3001; &#x91CD;&#x6392;&#x548C;&#x73AF;&#x5F62;&#x67D3;&#x8272;&#x4F53;&#x5F62;&#x6210;&#x8868;&#x53D7;&#x635F;&#x57FA;&#x56E0;&#x7684;&#x4E2D;&#x65AD;&#x3002;&#x4E00;&#x76F4;&#x5728;&#x4E50;&#x961F; 4q21 &#xFF1B; neocentromere &#x5F62;&#x6210;&#x4E00;&#x4E2A;&#x524D;&#x4E00;&#x4EFD;&#x62A5;&#x544A;&#x8FD9;&#x91CC;&#x4ECB;&#x7ECD;&#x7684;&#x89C2;&#x5BDF;&#x53EF;&#x80FD;&#x7EC6;&#x5316;&#x5047;&#x5B9A;&#x5171; neocentromeric &#x7AD9;&#x70B9;&#x4EE5;&#x5B50;&#x5E26; 4q21.2&#x3002;

&#x7C7B;&#x4E8C; neocentromeres&#xFF1A; &#x5047;&#x5B9A;&#x5171; neocentromere &#x7AD9;&#x70B9;&#x5728;&#x4E50;&#x961F; 4q21.2&#x3002;

Neocentromeres are rare functional centromeres formed within noncentromeric chromosomal regions. We report the finding of a neocentromere in a very rare class II analphoid chromosome. This neocentromere was detected prenatally in a fetus with the karyotype: 47,XY,del(4)(p15.3q21.1),+r(4)(p15.3q21.1).ish del(4)(D4S3360+,WHS+,D4Z1-,4qsubtel+),r(4)(D4S3360-,WHS-,D4Z1+,4qsubtel-)de novo. The fetus was missing one normal chromosome 4 but had a ring chromosome, consisting of the pericentromeric region of chromosome 4, and a deleted chromosome 4, the reciprocal product of the ring formation. In situ hybridization established that the chromosome 4 pericentromeric heterochromatin was located on the ring chromosome, while the Wolf-Hirschhorn critical region and chromosome 4 subtelomeric regions were present on the deleted chromosome. A C-band-negative constriction was observed in band 4q21.2 of the deleted chromosome 4, indicating that a neocentromere had been formed in this band, allowing stable segregation during cell division. This chromosome abnormality was detected in cultured amniocytes from a 20-week pregnancy presenting with intrauterine growth retardation and echogenic bowel. The pregnancy resulted in intrauterine death at 33-34 weeks. Despite the apparently balanced karyotype, the fetus is likely to have been phenotypically impaired due to disruption of genes by the neocentromere, rearrangement and ring chromosome formation. There has been one previous report of neocentromere formation in band 4q21; the observation presented here might refine a putative common neocentromeric site to sub-band 4q21.2.

Class II neocentromeres: a putative common neocentromere site in band 4q21.2.

Neocentromeres sont rares centrom&#xE8;res fonctionnelles form&#xE9;es dans les r&#xE9;gions chromosomiques noncentromeric. Nous rapportons le constat d&#x26;#39;une neocentromere dans un chromosome analphoid classe tr&#xE8;s rare II. Cette a &#xE9;t&#xE9; d&#xE9;tect&#xE9;e avant la naissance neocentromere dans un foetus avec le caryotype: 47., XY, del (4) (p15.3q21.1), + r (4) (p15.3q21.1) ish del (4) (+ D4S3360, WHS + , D4Z1-, 4qsubtel +), r (4) (D4S3360-, WHS-, D4Z1 +, 4qsubtel-) de novo. Le f&#x153;tus a &#xE9;t&#xE9; manque un chromosome 4 normale, mais avait un chromosome en anneau, constitu&#xE9; de la r&#xE9;gion du chromosome 4 p&#xE9;ricentrom&#xE9;rique, et un chromosome supprim&#xE9; 4, le produit inverse de la formation de l&#x26;#39;anneau. L&#x26;#39;hybridation in situ &#xE9;tabli que le chromosome 4 h&#xE9;t&#xE9;rochromatine p&#xE9;ricentrom&#xE9;rique a &#xE9;t&#xE9; localis&#xE9; sur le chromosome en anneau, tandis que la r&#xE9;gion de Wolf-Hirschhorn critique et r&#xE9;gions chromosomiques subt&#xE9;lom&#xE9;riques 4 &#xE9;taient pr&#xE9;sents sur le chromosome supprim&#xE9;. Un r&#xE9;tr&#xE9;cissement en bande C-n&#xE9;gative a &#xE9;t&#xE9; observ&#xE9;e dans la bande 4q21.2 du chromosome supprim&#xE9; 4, indiquant qu&#x26;#39;une neocentromere avait &#xE9;t&#xE9; form&#xE9; dans cette bande, ce qui permet une s&#xE9;gr&#xE9;gation stable pendant la division cellulaire. Cette anomalie chromosomique a &#xE9;t&#xE9; d&#xE9;tect&#xE9;e dans amniocytes en culture d&#x26;#39;une grossesse de 20 semaines pr&#xE9;sentant un retard de croissance intra-ut&#xE9;rin et du c&#xF4;lon &#xE9;chog&#xE8;ne. La grossesse a entra&#xEE;n&#xE9; la mort intra-ut&#xE9;rine &#xE0; 33-34 semaines. Malgr&#xE9; le caryotype apparemment &#xE9;quilibr&#xE9;e, le f&#x153;tus est susceptible d&#x26;#39;avoir &#xE9;t&#xE9; compromise ph&#xE9;notypiquement due &#xE0; la perturbation des g&#xE8;nes par la formation du chromosome neocentromere, r&#xE9;arrangement et la bague. Il ya eu un pr&#xE9;c&#xE9;dent rapport de la formation dans la bande 4q21 neocentromere; l&#x26;#39;observation pr&#xE9;sent&#xE9;e ici pourrait affiner une putative site commun neocentromeric &#xE0; la sous-bande 4q21.2.

Classe Neocentromeres II: un site putatif commune Neocentromere dans la bande 4q21.2

Klasse II neocentromeres: eine mutma&#xDF;liche gemeinsame neocentromere Standort in Band 4q21.2.

Neocentromeres sono rari centromeri funzionali formate all&#39;interno delle regioni cromosomiche noncentromeric. Riportiamo il ritrovamento di un neocentromere in un cromosoma analphoid II classe molto rara. Questo neocentromere &egrave; stato rilevato nel periodo prenatale nel feto con cariotipo: 47,XY,del(4)(p15.3q21.1),+r(4) (p15.3q21.1) .ish del(4)(D4S3360+,WHS+,D4Z1-,4qsubtel+),r(4) (D4S3360-, WHS, D4Z1 +, 4qsubtel) de novo. Il feto era mancante di un cromosoma normale 4 ma aveva un cromosoma ad anello, consistente di regione pericentromerica del cromosoma 4 e un cromosoma eliminato 4, il prodotto reciproco della formazione anello. Ibridazione in situ stabilito che l&#39;eterocromatina pericentromerica 4 cromosoma &egrave; stato localizzato sul cromosoma anello, mentre il Wolf-Hirschhorn regione critica e cromosoma 4 subtelomerica regioni erano presenti sul cromosoma eliminato. Una costrizione C-band-negativo &egrave; stato osservato nel gruppo 4q21.2 del soppresso cromosoma 4, che indica che un neocentromere era stata formata in questa banda, permettendo la segregazione stabile durante la divisione cellulare. Questa anomalia cromosomica &egrave; stata rilevata in amniociti coltivati da una gravidanza 20 settimana presentando con ritardo di crescita intrauterino ed ecogena intestinale. La gravidanza ha portato morte intrauterina a 33-34 settimane. Nonostante il cariotipo apparentemente equilibrato, il feto &egrave; probabile che sono stati fenotipicamente alterata a causa di interruzione dei geni dai neocentromere, riarrangiamento e formazione cromosoma anello. C&#39;&egrave; stata una precedente relazione di formazione neocentromere nella banda 4q21; l&#39;osservazione presentata qui potrebbe affinare un putativo neocentromeric sito comune Sub-banda 4q21.2.

Classe II neocentromeres: un sito putativo di neocentromere comune nella band 4q21.2.

Neocentromeres&#x306F;noncentromeric&#x67D3;&#x8272;&#x4F53;&#x9818;&#x57DF;&#x5185;&#x306B;&#x5F62;&#x6210;&#x3055;&#x308C;&#x305F;&#x307E;&#x308C;&#x306A;&#x6A5F;&#x80FD;&#x306E;&#x52D5;&#x539F;&#x4F53;&#x3067;&#x3042;&#x308B;&#x3002;&#x6211;&#x3005;&#x306F;&#x975E;&#x5E38;&#x306B;&#x7A00;&#x306A;&#x30AF;&#x30E9;&#x30B9;II analphoid&#x67D3;&#x8272;&#x4F53;&#x306B;neocentromere&#x306E;&#x767A;&#x898B;&#x3092;&#x5831;&#x544A;&#x3057;&#x307E;&#x3059;&#x3002; &#xFF08;p15.3q21.1&#xFF09;+ R&#xFF08;4&#xFF09;&#x3001;47&#x3001;XY&#x3001;&#x30C7;&#x30EB;&#xFF08;4&#xFF09;&#xFF08;p15.3q21.1&#xFF09;ISH&#x30C7;&#x30EB;&#xFF08;4&#xFF09;&#xFF08;D4S3360 +&#x3001;WHS +&#xFF1A;&#x3053;&#x306E;neocentromere&#x306F;&#x3001;&#x6838;&#x578B;&#x3068;&#x51FA;&#x751F;&#x524D;&#x306B;&#x80CE;&#x5150;&#x306B;&#x691C;&#x51FA;&#x3055;&#x308C;&#x307E;&#x3057;&#x305F;&#x3002; &#x3001;D4Z1-&#x3001;4qsubtel +&#xFF09;&#x3001;R&#xFF08;4&#xFF09;&#xFF08;D4S3360-&#x3001;WHS-&#x3001;D4Z1 +&#x3001;4qsubtel-&#xFF09;&#x306E;de novo&#x3002;&#x80CE;&#x5150;&#x306F;&#x4E00;&#x3064;&#x306E;&#x6B63;&#x898F;4&#x756A;&#x67D3;&#x8272;&#x4F53;&#x304C;&#x6B20;&#x843D;&#x3057;&#x307E;&#x3059;&#x304C;&#x3001;4&#x756A;&#x67D3;&#x8272;&#x4F53;&#x3001;&#x304A;&#x3088;&#x3073;&#x524A;&#x9664;&#x3055;&#x308C;&#x305F;&#x7B2C;4&#x67D3;&#x8272;&#x4F53;&#x306E;&#x52D5;&#x539F;&#x4F53;&#x5468;&#x8FBA;&#x9818;&#x57DF;&#x306B;&#x3001;&#x30EA;&#x30F3;&#x30B0;&#x5F62;&#x6210;&#x306E;&#x9006;&#x6570;&#x306E;&#x88FD;&#x54C1;&#x3067;&#x69CB;&#x6210;&#x3055;&#x308C;&#x3001;&#x74B0;&#x72B6;&#x67D3;&#x8272;&#x4F53;&#x3092;&#x6709;&#x3057;&#x3066;&#x3044;&#x305F;&#x3002; in situ&#x30CF;&#x30A4;&#x30D6;&#x30EA;&#x30C0;&#x30A4;&#x30BC;&#x30FC;&#x30B7;&#x30E7;&#x30F3;&#x30A6;&#x30EB;&#x30D5; - &#x30D2;&#x30EB;&#x30B7;&#x30E5;&#x30DB;&#x30EB;&#x30F3;&#x30AF;&#x30EA;&#x30C6;&#x30A3;&#x30AB;&#x30EB;&#x9818;&#x57DF;&#x3068;&#x7B2C;4&#x67D3;&#x8272;&#x4F53;&#x30B5;&#x30D6;&#x30C6;&#x30ED;&#x30E1;&#x30A2;&#x9818;&#x57DF;&#x304C;&#x524A;&#x9664;&#x3055;&#x308C;&#x305F;&#x67D3;&#x8272;&#x4F53;&#x4E0A;&#x306B;&#x5B58;&#x5728;&#x3057;&#x3066;&#x3044;&#x305F;&#x9593;&#x3001;4&#x756A;&#x67D3;&#x8272;&#x4F53;&#x52D5;&#x539F;&#x4F53;&#x5468;&#x8FBA;&#x306E;&#x30D8;&#x30C6;&#x30ED;&#x30AF;&#x30ED;&#x30DE;&#x30C1;&#x30F3;&#x306F;&#x3001;&#x74B0;&#x72B6;&#x67D3;&#x8272;&#x4F53;&#x4E0A;&#x306B;&#x914D;&#x7F6E;&#x3055;&#x308C;&#x3066;&#x3044;&#x308B;&#x3053;&#x3068;&#x3092;&#x78BA;&#x7ACB;&#x3057;&#x305F;&#x3002; C-&#x30D0;&#x30F3;&#x30C9;&#x8CA0;&#x306E;&#x304F;&#x3073;&#x308C;&#x306F;neocentromere&#x306F;&#x7D30;&#x80DE;&#x5206;&#x88C2;&#x306E;&#x9593;&#x306B;&#x5B89;&#x5B9A;&#x3057;&#x305F;&#x5206;&#x96E2;&#x3092;&#x53EF;&#x80FD;&#x306B;&#x3059;&#x308B;&#x3001;&#x3053;&#x306E;&#x30D0;&#x30F3;&#x30C9;&#x306B;&#x5F62;&#x6210;&#x3055;&#x308C;&#x305F;&#x3053;&#x3068;&#x3092;&#x793A;&#x3059;&#x3001;&#x524A;&#x9664;&#x3055;&#x308C;&#x305F;&#x7B2C;4&#x67D3;&#x8272;&#x4F53;&#x306E;&#x30D0;&#x30F3;&#x30C9;4q21.2&#x306B;&#x89B3;&#x5BDF;&#x3055;&#x308C;&#x305F;&#x3002;&#x3053;&#x306E;&#x67D3;&#x8272;&#x4F53;&#x7570;&#x5E38;&#x306F;&#x3001;&#x5B50;&#x5BAE;&#x5185;&#x80CE;&#x5150;&#x767A;&#x80B2;&#x9045;&#x5EF6;&#x3068;&#x30A8;&#x30B3;&#x30FC;&#x8F1D;&#x5EA6;&#x306E;&#x8178;&#x3092;&#x5448;&#x3057;&#x305F;20&#x9031;&#x306E;&#x598A;&#x5A20;&#x304B;&#x3089;&#x57F9;&#x990A;&#x7F8A;&#x6C34;&#x7D30;&#x80DE;&#x3067;&#x691C;&#x51FA;&#x3055;&#x308C;&#x305F;&#x3002;&#x598A;&#x5A20;&#x306F;33&#x304B;&#x3089;34&#x9031;&#x3067;&#x5B50;&#x5BAE;&#x5185;&#x6B7B;&#x4EA1;&#x3057;&#x305F;&#x3002;&#x660E;&#x3089;&#x304B;&#x306B;&#x30D0;&#x30E9;&#x30F3;&#x30B9;&#x306E;&#x3068;&#x308C;&#x305F;&#x6838;&#x578B;&#x306B;&#x3082;&#x304B;&#x304B;&#x308F;&#x3089;&#x305A;&#x3001;&#x80CE;&#x5150;&#x306F;&#x8868;&#x73FE;&#x578B;neocentromere&#x3001;&#x8EE2;&#x4F4D;&#x3068;&#x74B0;&#x72B6;&#x67D3;&#x8272;&#x4F53;&#x306E;&#x5F62;&#x6210;&#x306B;&#x3088;&#x308B;&#x907A;&#x4F1D;&#x5B50;&#x306E;&#x7834;&#x58CA;&#x304C;&#x539F;&#x56E0;&#x3067;&#x640D;&#x306A;&#x308F;&#x308C;&#x3066;&#x3044;&#x308B;&#x53EF;&#x80FD;&#x6027;&#x304C;&#x3042;&#x308A;&#x307E;&#x3059;&#x3002;&#x30D0;&#x30F3;&#x30C9;4q21&#x306B;neocentromere&#x5F62;&#x6210;&#x306E;&#x3044;&#x305A;&#x308C;&#x304B;&#x306E;&#x4EE5;&#x524D;&#x306E;&#x5831;&#x544A;&#x304C;&#x3042;&#x308A;&#x307E;&#x3057;&#x305F;&#x3002;&#x3053;&#x3053;&#x3067;&#x7D39;&#x4ECB;&#x3059;&#x308B;&#x89B3;&#x5BDF;&#x306F;&#x3001;&#x30B5;&#x30D6;&#x30D0;&#x30F3;&#x30C9;4q21.2&#x306B;&#x63A8;&#x5B9A;&#x3055;&#x308C;&#x308B;&#x4E00;&#x822C;&#x7684;&#x306A;neocentromeric&#x30B5;&#x30A4;&#x30C8;&#x3092;&#x7D5E;&#x308A;&#x8FBC;&#x3080;&#x3053;&#x3068;&#x304C;&#x3042;&#x308A;&#x307E;&#x3059;&#x3002;

&#x30AF;&#x30E9;&#x30B9;II Neocentromeres&#xFF1A;&#x30D0;&#x30F3;&#x30C9;4q21.2&#x306B;&#x63A8;&#x5B9A;&#x3055;&#x308C;&#x308B;&#x4E00;&#x822C;&#x7684;&#x306A;Neocentromere&#x30B5;&#x30A4;&#x30C8;

Neocentromeres &#xB4DC;&#xBB38; &#xAE30;&#xB2A5; centromeres noncentromeric &#xC5FC;&#xC0C9;&#xCCB4; &#xC601;&#xC5ED; &#xB0B4;&#xC5D0;&#xC11C; &#xD615;&#xC131; &#xB429;&#xB2C8;&#xB2E4;. &#xC6B0;&#xB9AC;&#xB294; &#xB9E4;&#xC6B0; &#xB4DC;&#xBB38; &#xD074;&#xB798;&#xC2A4; II analphoid &#xC5FC;&#xC0C9;&#xCCB4;&#xC5D0;&#xC11C; neocentromere&#xC758; &#xBC1C;&#xACAC;&#xC744; &#xBCF4;&#xACE0;&#xD569;&#xB2C8;&#xB2E4;. &#xC774; neocentromere&#xB294; &#xD0DC;&#xC544;&#xB97C; karyotype&#xC640; prenatally &#xAC80;&#xC0C9;: 47,XY,del(4)(p15.3q21.1),+r(4) (p15.3q21.1).ish del(4)(D4S3360+,WHS+,D4Z1-,4qsubtel+),r(4) (D4S3360, WHS, D4Z1 +, 4qsubtel-) &#xB4DC; &#xB178; &#xBCF4;. &#xD0DC;&#xC544; 1 &#xAC1C;&#xC758; &#xC815;&#xC0C1; &#xC5FC;&#xC0C9;&#xCCB4; 4 &#xC5C6;&#xB294; &#xAC83; &#xC774;&#xC5C8;&#xC9C0;&#xB9CC; &#xBC18;&#xC9C0; &#xC5FC;&#xC0C9;&#xCCB4;, &#xC5FC;&#xC0C9;&#xCCB4; 4, pericentromeric &#xC9C0;&#xC5ED; &#xC0AD;&#xC81C; &#xB41C; &#xC5FC;&#xC0C9;&#xCCB4; 4, &#xB9C1; &#xD615;&#xC131;&#xC758; &#xC0C1;&#xD638; &#xC81C;&#xD488;&#xC73C;&#xB85C; &#xAD6C;&#xC131; &#xB41C; &#xD588;&#xB2E4;. &#xC81C;&#xC790;&#xB9AC; &#xAD50; &#xC7A1; &#xC124;&#xB9BD; &#xC5FC;&#xC0C9;&#xCCB4; 4 pericentromeric &#xC12C;&#xC73C;&#xB85C; &#xBC18;&#xC9C0; &#xC5FC;&#xC0C9;&#xCCB4;&#xC5D0; &#xC704;&#xCE58; &#xD574; &#xC788;&#xB2E4;, &#xB291;&#xB300; Hirschhorn &#xD558;&#xBA74;&#xC11C; &#xC911;&#xC694; &#xD55C; &#xC601;&#xC5ED; &#xBC0F; &#xC5FC;&#xC0C9;&#xCCB4; 4 subtelomeric &#xC601;&#xC5ED; &#xC0AD;&#xC81C; &#xB41C; &#xC5FC;&#xC0C9;&#xCCB4;&#xC5D0; &#xCC38;&#xC11D; &#xD588;&#xB2E4;. &#xC74C;&#xC774; C-&#xBC34;&#xB4DC; &#xC218;&#xCD95; &#xC138;&#xD3EC; &#xBD84;&#xC5F4; &#xB3D9;&#xC548; &#xC548;&#xC815;&#xC801;&#xC778; &#xBD84;&#xB9AC;&#xB97C; &#xD5C8;&#xC6A9; &#xD558;&#xB294;&#xC774; &#xBC34;&#xB4DC;&#xB294; neocentromere &#xD588;&#xB2E4; &#xD615;&#xC131;&#xC744; &#xB098;&#xD0C0;&#xB0B4;&#xB294; &#xC0AD;&#xC81C; &#xB41C; &#xC5FC;&#xC0C9;&#xCCB4; 4, &#xBC34;&#xB4DC; 4q21.2&#xC5D0;&#xC11C; &#xAD00;&#xCC30; &#xB418;&#xC5C8;&#xB2E4;. &#xC774; &#xC5FC;&#xC0C9;&#xCCB4; &#xC774;&#xC0C1;&#xC774; &#xC790;&#xAD81;&#xB0B4; &#xC131;&#xC7A5; &#xC9C0;&#xCCB4;&#xC640; echogenic &#xB300; &#xC7A5; 20 &#xC8FC; &#xC784;&#xC2E0; &#xC81C;&#xC2DC;&#xC5D0;&#xC11C; &#xAD50;&#xC591;&#xB41C; amniocytes&#xC5D0;&#xC11C; &#xAC80;&#xC0C9; &#xB418;&#xC5C8;&#xC2B5;&#xB2C8;&#xB2E4;. &#xC784;&#xC2E0; 33 ~ 34 &#xC8FC;&#xC5D0; &#xC790;&#xAD81;&#xB0B4; &#xC8FD;&#xC74C; &#xADC0;&#xCC29;&#xB418; &#xC5C8; &#xB2E4;. &#xBD84;&#xBA85;&#xD788; &#xADE0;&#xD615;&#xC7A1;&#xD78C;&#xB41C; karyotype &#xBD88;&#xAD6C; &#xD558; &#xACE0; &#xD0DC;&#xC544; phenotypically neocentromere, &#xC7AC;&#xBC30;&#xCE58; &#xBC0F; &#xB9C1; &#xC5FC;&#xC0C9;&#xCCB4; &#xD615;&#xC131; &#xD558; &#xC5EC; &#xC720;&#xC804;&#xC790;&#xC758; &#xC911;&#xB2E8; &#xC778;&#xD574; &#xC7A5;&#xC560;&#xC778; &#xB418;&#xC5C8;&#xC2B5;&#xB2C8;&#xB2E4; &#xAC00;&#xB2A5;&#xC131;&#xC774; &#xB192;&#xC2B5;&#xB2C8;&#xB2E4;. Neocentromere &#xB300;&#xD615; &#xBC34;&#xB4DC; 4q21;&#xC5D0; &#xD55C; &#xC774;&#xC804; &#xBCF4;&#xACE0;&#xC11C;&#xAC00; &#xC788;&#xB2E4; &#xC5EC;&#xAE30;&#xC5D0; &#xC81C;&#xC2DC; &#xB41C; &#xAD00;&#xCC30; 4q21.2 sub-band &#xC0C1; &#xC77C;&#xBC18;&#xC801;&#xC778; neocentromeric &#xC0AC;&#xC774;&#xD2B8;&#xB97C; &#xC138;&#xBC00; &#xD558; &#xAC8C; &#xC218; &#xC788;&#xC2B5;&#xB2C8;&#xB2E4;.

&#xD074;&#xB798;&#xC2A4; II neocentromeres: &#xBC34;&#xB4DC; 4q21.2&#xC5D0;&#xC11C; &#xC0C1; &#xC77C;&#xBC18;&#xC801;&#xC778; neocentromere &#xC0AC;&#xC774;&#xD2B8;.

Neocentromeres son raros los centr&#xF3;meros funcionales formados dentro noncentromeric regiones cromos&#xF3;micas. Se presenta el hallazgo de un neocentromere en un cromosoma analphoid clase muy rara II. Este neocentromere se detecta prenatalmente en un feto con el cariotipo. 47, XY, del (4) (p15.3q21.1), + R (4) (p15.3q21.1) ish del (4) (+ D4S3360, WHS + , D4Z1-, 4qsubtel +), R (4) (D4S3360-,-WHS, D4Z1 +, 4qsubtel-) de novo. El feto faltaba un 4 cromosoma normal, pero ten&#xED;a un cromosoma en anillo, que consta de la regi&#xF3;n pericentrom&#xE9;rica del cromosoma 4, y un cromosoma suprimido 4, el producto rec&#xED;proco de la formaci&#xF3;n del anillo. La hibridaci&#xF3;n in situ establecido que el cromosoma 4 pericentrom&#xE9;rica heterocromatina se encuentra en el cromosoma en anillo, mientras que la regi&#xF3;n cr&#xED;tica de Wolf-Hirschhorn y el cromosoma 4 subtelomeric regiones estuvieron presentes en el cromosoma eliminado. Una constricci&#xF3;n banda C-negativa se observ&#xF3; en banda 4q21.2 del cromosoma 4 eliminada, lo que indica que un neocentromere se hab&#xED;a formado en esta banda, permitiendo la segregaci&#xF3;n estable durante la divisi&#xF3;n celular. Esta anomal&#xED;a cromos&#xF3;mica se detect&#xF3; en el cultivo de amniocitos de un embarazo de 20 semanas se presenta con retraso del crecimiento intrauterino y el intestino ecog&#xE9;nico. El embarazo se dio en la muerte intrauterina en 33-34 semanas. A pesar de que el cariotipo aparentemente equilibrada, el feto es probable que haya sido fenot&#xED;picamente afectada debido a la interrupci&#xF3;n de los genes por la formaci&#xF3;n del cromosoma neocentromere, la reorganizaci&#xF3;n y el anillo. Ha habido un informe anterior de la formaci&#xF3;n en la banda 4q21 neocentromere; la observaci&#xF3;n que aqu&#xED; se presenta puede afinar un supuesto sitio de neocentromeric com&#xFA;n sub-banda 4q21.2.

Clase II Neocentromeres: un supuesto sitio com&#xFA;n en la banda 4q21.2 Neocentromere

&#x6211;&#x4EEC;&#x63CF;&#x8FF0;&#x4E86;&#x4E00;&#x4E2A;&#x4ECE;&#x5634;&#x5507;&#x4E25;&#x91CD;&#x7684;&#x9762;&#x90E8;&#x7578;&#x5F62;&#x3001; &#x989A;&#x3001; &#x8033;&#x524D;&#x76AE;&#x80A4;&#x6807;&#x8BB0;&#x3001; postaxial hexadactyly&#x3001; &#x8E7C;&#x53F3;&#x80BA;&#x3001; &#x7F16;&#x5916;&#x9885;&#x9AA8;&#x548C;&#x5927;&#x8111;&#x7684;&#x6269;&#x5F20;&#x4FA7;&#x8111;&#x5BA4;&#x5375;&#x80DE;&#x6D46;&#x5185;&#x5355;&#x7CBE;&#x5B50;&#x6CE8;&#x5C04; (ICSI) &#x598A;&#x5A20;&#x7684;&#x80CE;&#x513F;&#x3002;G-&#x5E26;&#x3001; &#x8367;&#x5149;&#x539F;&#x4F4D;&#x6742;&#x4EA4;&#x6280;&#x672F; (FISH)&#x3001; &#x6574;&#x4E2A;&#x67D3;&#x8272;&#x4F53;&#x6CB9;&#x6F06; (&#x9057;&#x5B40;)&#x3001; &#x4E9A;&#x7AEF;&#x7C92;&#x63A2;&#x6D4B;&#x5668;&#x548C;&#x591A;&#x8272;&#x52A0;&#x5BBD; (MCB) &#x7ED3;&#x5408;&#x4F7F;&#x7528;&#x67D3;&#x8272;&#x4F53;&#x6838;&#x578B;&#x88AB;&#x53D1;&#x73B0;&#xFF0C;&#x5305;&#x62EC; de novo &#x4E0D;&#x5E73;&#x8861;&#x7684;&#x9AD8;&#x5EA6;&#x590D;&#x6742;&#x7684;&#x67D3;&#x8272;&#x4F53;&#x91CD;&#x6392; (&#x5BAB;&#x9888;) 3&#x3001; &#x5341;&#x4E8C;&#x548C;&#x4E0E;&#x4E03;&#x4E2A;&#x65AD;&#x70B9;&#xFF0C;15 &#x53F7;&#x67D3;&#x8272;&#x4F53;&#x548C;&#x5305;&#x62EC;&#x4E3A;&#x4E24;&#x4E2A;&#x5355;&#x72EC;&#x533A;&#x57DF; 12 &#x53F7;&#x67D3;&#x8272;&#x4F53;&#x7684;&#x67D3;&#x8272;&#x4F53;&#x3002;

&#x591A;&#x8272;&#x6761;&#x7EB9;&#x68C0;&#x6D4B;&#x590D;&#x6742;&#x7684;&#x4E09;&#x4E2A;&#x67D3;&#x8272;&#x4F53;&#xFF0C;&#x5728;&#x591A;&#x4E2A;&#x5F02;&#x5E38; ICSI &#x6D3E;&#x751F;&#x80CE;&#x513F;&#x4E03;&#x4E2A;&#x65AD;&#x70B9;&#x4E0D;&#x5E73;&#x8861;&#x91CD;&#x6392;&#x3002;

We describe a fetus from an intracytoplasmic sperm injection (ICSI) pregnancy with severe facial clefts, receding jaw, preauricular skin tags, postaxial hexadactyly, bi-lobed right lung, supernumerary cranial bone, and dilated lateral ventricles of the brain. Using a combination of G-banding, fluorescence in situ hybridization (FISH), whole chromosome paints (WCPs), subtelomere probes, and multicolor banding (MCB), the karyotype was found to include a de novo unbalanced highly complex chromosome rearrangement (hCCR) involving chromosomes 3, 12, and 15 with seven breakpoints, and including monosomy for two separate regions of chromosome 12.

Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities.

Nous d&#xE9;crivons un f&#x153;tus &#xE0; partir d&#x26;#39;une injection intracytoplasmique de spermatozo&#xEF;des (ICSI) la grossesse de graves fentes labio-palatines, le recul des m&#xE2;choires, les balises de la peau pr&#xE9;auriculaires, hexadactylie postaxiale, poumon droit bi-lob&#xE9;, surnum&#xE9;raire os cr&#xE2;nien, et dilat&#xE9;es ventricules lat&#xE9;raux du cerveau. En utilisant une combinaison de G-banding, l&#x26;#39;hybridation fluorescente in situ (FISH), les peintures chromosomiques entiers (WCPs), des sondes subt&#xE9;lom&#xE9;riques et multicolore de baguage (MCB), le caryotype a &#xE9;t&#xE9; trouv&#xE9; afin d&#x26;#39;inclure un examen de novo r&#xE9;arrangement chromosomique d&#xE9;s&#xE9;quilibr&#xE9;e tr&#xE8;s complexe (HCCR) impliquant les chromosomes 3, 12, et 15 avec sept points d&#x26;#39;arr&#xEA;t, et dont la monosomie pour deux r&#xE9;gions distinctes du chromosome 12.

Multicolor baguage D&#xE9;tecte un complexe de trois chromosomes, les restructurations Sept Breakpoint asym&#xE9;trique dans un f&#x153;tus ICSI-d&#xE9;riv&#xE9;e avec des anomalies multiples

Wir beschreiben einen F&ouml;tus aus einer Intrazytoplasmatische Spermien-Injektion (ICSI)-Schwangerschaft mit schwere Gesichts Risse, fliehenden Kiefer, pr&auml;aurikul&auml;re Marisken, postaxiale Hexadaktylie Bi-gelappte rechten Lunge, &uuml;berz&auml;hlige Sch&auml;delknochen und dilatative Seitenventrikel des Gehirns. Mit einer Kombination von G-Streifenbildung, Fluoreszenz in Situ Hybridisierung (FISH), ganze Chromosom Farben (WCPs), Subtelomere Sonden und mehrfarbigen Streifenbildung (MCB), fand der Karyotyp, eine de-Novo enthalten hochkomplexe Chromosom-Umlagerung (hCCR), unter Beteiligung der Chromosomen 3, 12 und 15 mit sieben Haltepunkte und einschlie&szlig;lich Monosomie f&uuml;r zwei separate Regionen des Chromosoms 12 unsymmetrisch.

Multicolor Streifenbildung erkennt eine komplexe drei Chromosom, sieben Haltepunkt unsymmetrisch-Umlagerung in eine ICSI abgeleitete Feten mit multiple Fehlbildungen.

Descriviamo un feto da una gravidanza (ICSI) iniezione intracitoplasmatica di spermatozoi con grave schisi facciale, mandibola sfuggente, tag pelle preauricolare, esadattilia postassiale, polmone di destra bilobato, sovrannumerario osso cranico e dilatate ventricoli laterali del cervello. Utilizzando una combinazione di G-fascia, fluorescenza in situ hybridization (FISH), vernici intero cromosoma (WCPs), sonde subtelomeriche e strisce multicolore (MCB), il cariotipo &egrave; stato trovato per includere un novo de sbilanciato riarrangiamento di cromosoma altamente complessi (HCCR s) che coinvolgono i cromosomi 3, 12 e 15 con sette punti di interruzione e compresa la monosomia per due distinte regioni del cromosoma 12.

Banding multicolor rileva un cromosoma tre complessi, riarrangiamento di sette breakpoint sbilanciato in un feto derivato da ICSI con anomalie multiple.

&#x6211;&#x3005;&#x306F;&#x3001;&#x984E;&#x3001;&#x8033;&#x4ECB;&#x306E;&#x76AE;&#x819A;&#x30BF;&#x30B0;&#x3001;&#x8EF8;&#x5F8C;&#x65B9;&#x306E;hexadactyly&#x3001;&#x53CC;&#x65B9;&#x5411;&#x30ED;&#x30FC;&#x30D6;&#x53F3;&#x80BA;&#x3001;&#x904E;&#x5270;&#x982D;&#x84CB;&#x9AA8;&#x3001;&#x8133;&#x306E;&#x5074;&#x8133;&#x5BA4;&#x62E1;&#x5F35;&#x578B;&#x5FC3;&#x7B4B;&#x75C7;&#x3092;&#x5F8C;&#x9000;&#x3001;&#x6DF1;&#x523B;&#x306A;&#x9854;&#x88C2;&#x3068;&#x7D30;&#x80DE;&#x8CEA;&#x5185;&#x7CBE;&#x5B50;&#x6CE8;&#x5165;&#x6CD5;&#xFF08;ICSI&#xFF09;&#x306E;&#x598A;&#x5A20;&#x304B;&#x3089;&#x80CE;&#x5150;&#x3092;&#x8A18;&#x8FF0;&#x3057;&#x307E;&#x3059;&#x3002; in situ&#x30CF;&#x30A4;&#x30D6;&#x30EA;&#x30C0;&#x30A4;&#x30BC;&#x30FC;&#x30B7;&#x30E7;&#x30F3;&#xFF08;FISH&#xFF09;&#x3001;&#x5168;&#x4F53;&#x306E;&#x67D3;&#x8272;&#x4F53;&#x5857;&#x6599;&#xFF08;WCPs&#xFF09;&#x3001;subtelomere&#x30D7;&#x30ED;&#x30FC;&#x30D6;&#x3001;&#x30D0;&#x30F3;&#x30C7;&#x30A3;&#x30F3;&#x30B0;&#x591A;&#x8272;&#xFF08;MCB&#xFF09;&#x306E;&#x86CD;&#x5149;G-&#x30D0;&#x30F3;&#x30C7;&#x30A3;&#x30F3;&#x30B0;&#x306E;&#x7D44;&#x307F;&#x5408;&#x308F;&#x305B;&#x3092;&#x4F7F;&#x7528;&#x3057;&#x3066;&#x3001;&#x6838;&#x578B;&#x306F;&#x3001;de novo&#x306E;&#x30D0;&#x30E9;&#x30F3;&#x30B9;&#x304C;&#x975E;&#x5E38;&#x306B;&#x8907;&#x96D1;&#x306A;&#x67D3;&#x8272;&#x4F53;&#x8EE2;&#x4F4D;&#xFF08;HCCR&#xFF09;&#x3092;&#x542B;&#x3081;&#x308B;&#x3053;&#x3068;&#x304C;&#x5224;&#x660E;&#x3057;&#x305F;&#x67D3;&#x8272;&#x4F53;3&#x3001;12&#x3001;7&#x30DD;&#x30A4;&#x30F3;&#x30C8;15&#x3092;&#x542B;&#x3080;&#x3068;&#x3001;12&#x756A;&#x67D3;&#x8272;&#x4F53;&#x306E;2&#x3064;&#x306E;&#x5225;&#x3005;&#x306E;&#x9818;&#x57DF;&#x306E;&#x30E2;&#x30CE;&#x30BD;&#x30DF;&#x30FC;&#x3092;&#x542B;&#x3080;&#x3002;

&#x591A;&#x8272;&#x30D0;&#x30F3;&#x30C7;&#x30A3;&#x30F3;&#x30B0;&#x306F;&#x3001;&#x8907;&#x96D1;&#x306A;&#x4E09;&#x67D3;&#x8272;&#x4F53;&#x3001;&#x8907;&#x6570;&#x306E;&#x7570;&#x5E38;&#x3068;ICSI&#x7531;&#x6765;&#x306E;&#x80CE;&#x5150;&#x5185;&#x30BB;&#x30D6;&#x30F3;&#x30D6;&#x30EC;&#x30FC;&#x30AF;&#x30D0;&#x30E9;&#x30F3;&#x30B9;&#x8EE2;&#x4F4D;&#x3092;&#x691C;&#x51FA;

&#xC6B0;&#xB9AC;&#xB294; &#xC2EC;&#xAC01;&#xD55C; &#xC5BC;&#xAD74; clefts, &#xD544;&#xC0AC;&#xC801;&#xC73C;&#xB85C; &#xD131;, preauricular &#xD53C;&#xBD80; &#xD0DC;&#xADF8;, postaxial hexadactyly, bi lobed &#xC624;&#xB978;&#xCABD; &#xD3D0;, supernumerary &#xB450;&#xAC1C;&#xACE8; &#xBF08;&#xC640; &#xB1CC;&#xC758; &#xB3D9; &#xACF5;&#xC774; &#xD655;&#xC7A5; &#xB418;&#xC5B4; &#xCE21;&#xBA74; &#xC2EC; intracytoplasmic &#xC815;&#xC790; &#xC8FC;&#xC785; (ICSI) &#xC784;&#xC2E0;&#xC5D0;&#xC11C; &#xD0DC;&#xC544;&#xB97C; &#xC124;&#xBA85;&#xD569;&#xB2C8;&#xB2E4;. G-&#xB760; &#xD615;&#xAD11; &#xC81C;&#xC790;&#xB9AC; &#xAD50; &#xC7A1; (&#xBB3C;&#xACE0;&#xAE30;), &#xC804;&#xCCB4; &#xC5FC;&#xC0C9;&#xCCB4; &#xD398;&#xC778;&#xD2B8; (WCPs), subtelomere &#xD504;&#xB85C;&#xBE0C;, &#xADF8;&#xB9AC;&#xACE0; &#xC5EC;&#xB7EC; &#xAC00;&#xC9C0; &#xBE5B;&#xAE54;&#xC758; &#xC904;&#xBB34;&#xB2AC; (MCB)&#xC5D0;&#xC11C; &#xC870;&#xD569;&#xC744; &#xC0AC;&#xC6A9; &#xD558; &#xC5EC; karyotype &#xB4DC; &#xB178; &#xBCF4;&#xB97C; &#xD3EC;&#xD568; &#xD558;&#xB3C4;&#xB85D; &#xB9E4;&#xC6B0; &#xBCF5;&#xC7A1; &#xD55C; &#xC5FC;&#xC0C9;&#xCCB4; &#xC7AC;&#xBC30;&#xC5F4; (hCCR) &#xC5FC;&#xC0C9;&#xCCB4; 3, 12, &#xBC0F; 15 7 &#xC911;&#xB2E8;&#xC810;&#xC744; &#xD3EC;&#xD568; &#xD558; &#xACE0; monosomy &#xC5FC;&#xC0C9;&#xCCB4; 12&#xC758; &#xB450; &#xAC1C;&#xC758; &#xBCC4;&#xB3C4; &#xC601;&#xC5ED;&#xC744; &#xD3EC;&#xD568; &#xD558; &#xC5EC; &#xBD88;&#xADE0;&#xD615; &#xBC1C;&#xACAC; &#xB410;&#xB2E4;.

&#xBA40;&#xD2F0; &#xCEEC;&#xB7EC; &#xBC34;&#xB529; &#xBCF5;&#xC7A1; &#xD55C; &#xC138; &#xC5FC;&#xC0C9;&#xCCB4; 7 &#xC911;&#xB2E8;&#xC810; &#xBD88;&#xADE0;&#xD615; &#xC7AC;&#xBC30;&#xCE58; &#xC5EC;&#xB7EC; &#xC774;&#xC0C1;&#xC73C;&#xB85C; ICSI &#xD30C;&#xC0DD; &#xB41C; &#xD0DC;&#xC544;&#xC5D0;&#xC11C; &#xAC80;&#xC0C9;&#xD569;&#xB2C8;&#xB2E4;.

Se describe un feto de una inyecci&#xF3;n intracitoplasm&#xE1;tica de espermatozoides (ICSI), el embarazo, con graves fisuras faciales, retrocede la mand&#xED;bula, las etiquetas preauriculares piel, hexadactyly postaxial, bi-lobulado pulm&#xF3;n derecho, el hueso craneal supernumerario, y dilataci&#xF3;n de los ventr&#xED;culos laterales del cerebro. Usando una combinaci&#xF3;n de bandas G, hibridaci&#xF3;n in situ fluorescente (FISH), las pinturas de los cromosomas completos (WCPS), sondas de subtelomere y multicolor de bandas (MCB), el cariotipo se encontr&#xF3; que incluyen un reordenamiento de novo desequilibrio cromos&#xF3;mico de alta complejidad (HCCR) la participaci&#xF3;n de los cromosomas 3, 12 y 15 con siete puntos de ruptura, e incluyendo monosom&#xED;a de dos regiones separadas del cromosoma 12.

Multicolor Bandas Detecta un complejo de tres cromosomas, siete Reordenamiento punto de interrupci&#xF3;n desequilibrada en un feto ICSI derivado con m&#xFA;ltiples anomal&#xED;as

We describe a partial duplication of the chromosome 16 short arm [46,XY,dup(16)(p11.2p13.1)] in an Iranian girl with autism, neurodevelopmental delay, mental retardation, very poor memory, and dysmorphism including sparse hair, upslanting palpebral fissures, long philtrum, micrognathia, hypotonia, small feet and hands, syndactyly of the fingers, and hypoplastic thumbs. The patient now four years old, has a normal twin sister, and the parents are unrelated. The abnormal 16p was originally detected by banding cytogenetic techniques, and was characterized by multicolour banding fluorescence in situ hybridization (MCB). The MCB pattern on the derivative chromosome 16 indicated a direct duplication of the region 16p11.2 to 16p13.1.

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.

We report on a patient with a mild clinical phenotype, including genital anomalies, with mosaic tetrasomy 9p. Karyotype analysis of peripheral blood lymphocytes detected a supernumerary isochromosome 9p present in every cell, with the initial result being reported as tetrasomy 9p in non-mosaic form. However,array Comparative Genomic Hybridization (aCGH) studies on DNA extracted from peripheral blood lymphocytes and saliva showed that the patient had tissue-specific mosaicism, with a lower level of abnormal cells in the saliva. These results correlate with the patient's clinical features as non-mosaic cases of tetrasomy 9p have a more severe, often lethal, clinical phenotype. If non-mosaic tetrasomy 9p is identified in a peripheral blood culture then examination of a different tissue type should be undertaken. Array CGH may be used as an alternative to karyotype analysis to estimate the level of mosaicism, and may eliminate the need for invasive skin biopsy as samples such as buccal smear and saliva can be used. Array CGH is able to detect mosaicism, establish the euchromatic content of supernumerary marker chromosomes, and identify imbalances elsewhere in the genome allowing more accurate counselling and prognosis for patients.

Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH.

Preimplantation genetic diagnosis (PGD) has been carried out for two couples with different mosaic Robertsonian translocations. Two PGD cycles for a mosaic 13;13 homologous Robertsonian translocation carrier resulted in the birth of a healthy child in each cycle, illustrating the importance of scanning G-banded preparations from homologous Robertsonian carriers for the presence of a normal cell line. One couple was referred for PGD because the male partner carried a mosaic 14;15 Robertsonian translocation with a normal cell line. A single PGD cycle resulted in the birth of a healthy child. Follow-up studies and extended FISH analysis of the carrier's lymphocytes detected three cell lines, two carrying different 14;15 Robertsonian chromosomes and one normal cell line. The two 14;15 Robertsonian chromosomes had different breakpoints in the proximal short arm regions. We suggest that the presence of the D15Z1 polymorphism on the short arm of one chromosome 14 mediated the post-zygotic formation of the two different Robertsonian chromosomes.

Successful PGD cycles for mosaic Robertsonian translocation carriers provide insights into the mechanism of formation of the derivative chromosomes.

Array CGH is widely used in cytogenetics centres for postnatal constitutional genome analysis, and is now recommended as a first line test in place of G-banded chromosome analysis. At our centre, first line testing by oligonucleotide array CGH for all constitutional referrals for genome imbalance has been in place since June 2008, using a patient vs patient hybridisation strategy to minimise costs.

Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.

Our study provides an analysis of the outcome of meiotic segregation of three-way translocations in cleavage-stage embryos and the accuracy and limitations of preimplantation genetic diagnosis (PGD) using the fluorescence in situ hybridization technique. We propose a general model for estimating reproductive risks for carriers of this class of complex chromosome rearrangement. The data presented describe six cycles for four couples where one partner has a three-way translocation. For male heterozygotes, 27.6% of embryos were consistent with 3:3 alternate segregation resulting in a normal or balanced translocation chromosome complement; 41.4% were consistent with 3:3 adjacent segregation of the translocations, comprising 6.9% reflecting adjacent-1 and 34.5% adjacent-2 segregation; 24.1% were consistent with 4:2 nondisjunction; none showed 5:1 or 6:0 segregation; the probable mode could not be ascertained for 6.9% of embryos due to complex mosaicism or nucleus fragmentation. The test accuracy for male heterozygotes was estimated to be 93.1% with 100% sensitivity and 75% specificity. With 72.4% prevalence, the predictive value was estimated to be 91.3% for an abnormal test result and 100% for a normal test result. Two of four couples had a healthy baby following PGD. The proportion of normal/balanced embryo could be significantly less for female heterozygotes, and our model indicates that this could be detrimental to the effectiveness of PGD. A 20% risk of live-born offspring with an unbalanced translocation is generally accepted, largely based on the obstetric history of female heterozygotes; we suggest that a 3% risk may be more appropriate for male carriers.

Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD.

Array comparative genomic hybridization (CGH) for high resolution detection of chromosome imbalance, and karyotype analysis using G-banded chromosomes for detection of chromosome rearrangements, provide a powerful diagnostic armoury for clinical cytogenetics. However, abnormalities detected by karyotype analysis cannot always be characterised by scrutinising the G-banded pattern alone, and imbalance detected by array CGH cannot always be visualised in the context of metaphase chromosomes. In some cases further techniques are needed for detailed characterisation of chromosomal abnormalities. We investigated seven cases involving structural chromosome rearrangements detected by karyotype analysis, and one case where imbalance was primarily detected by array CGH. Multicolor banding (MCB) was used in all cases and proved invaluable in understanding the detailed structure of the abnormalities.

Multicolor banding remains an important adjunct to array CGH and conventional karyotyping.

Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding the detection of copy number variants (CNVs) of unclear prognosis that cause parental anxiety. Methods. All prenatal samples fulfilling our criteria for karyotype analysis (n = 342) were tested by chromosomal microarray and only CNVs of established deletion/duplication syndrome regions and any other CNV >3 Mb were detected and reported. A retrospective full-resolution analysis of 249 of these samples was carried out to ascertain the performance of this testing strategy. Results. Using our prenatal analysis, 23/342 (6.7%) samples were found to be abnormal. Of the remaining samples, 249 were anonymized and reanalyzed at full-resolution; a further 46 CNVs were detected in 44 of these cases (17.7%). None of these additional CNVs were of clear clinical significance. Conclusion. This prenatal chromosomal microarray strategy detected all CNVs of clear prognostic value and did not miss any CNVs of clear clinical significance. This strategy avoided both the problems associated with interpreting CNVs of uncertain prognosis and the parental anxiety that are a result of such findings.

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings.

Susan Bint

Cytogenetics Department

Viapath Analytics

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Susan Bint

.css-o250i3{font-size:18px;font-family:Open Sans,sans-serif;line-height:21.6px;}Cytogenetics Department

Viapath Analytics

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Cytogenetics Department