Partial Trisomy 1q41-qter and Partial Trisomy 9pter-9q21.32 in a Newborn Infant: An Array CGH Analysis and Review

被引：5

作者：

Akalin, Ibrahim ^{[1
]}

Bozdag, Senol ^{[2
]}

Spielmann, Malte ^{[3
]}

Basaran, Sarenur Yilmaz ^{[1
]}

Nanda, Indrajit ^{[4
]}

Klopocki, Eva ^{[3
,4
]}

机构：

[1] Istanbul Medeniyet Univ, Dept Med Genet, Fac Med, TR-34730 Istanbul, Turkey

[2] Umraniye Res & Training Hosp, Neonatol Unit, Istanbul, Turkey

[3] Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

[4] Univ Wurzburg, Inst Humangenet, D-97070 Wurzburg, Germany

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2014年 / 164卷 / 02期

关键词：

t(1; 9); duplication; 1q41; 9p; partial trisomy; array CGH; DUPLICATION; 1Q; DELINEATION; REPEATS;

D O I：

10.1002/ajmg.a.36278

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a girl who presented with distinctive abducted hip and hyperextended knee. Cytogenetic analysis detected an extra derivative chromosome resulting from a balanced translocation in the mother and 3:1 segregation. Using array comparative genomic hybridization (CGH) in combination with conventional high resolution GTG banding, we designate the karyotype as 47, XX, +der(9)t(1;9)(q41;q21.32)mat, indicating tertiary trisomy of chromosome segments 1q41-qter and 9pter-9q21.32. A review and genotype-phenotype correlation suggested that the patient represented most of the manifestations of duplication of chromosome arms 1q and 9p. To our knowledge, a similar case has so far not been reported. (c) 2013 Wiley Periodicals, Inc.

引用

页码：490 / 494

页数：5

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