A novel 8 mb interstitial deletion of chromosome 8p12-p21.2

被引：20

作者：

Klopocki, E

Fiebig, B

Robinson, P

Tönnies, H

Erdogan, F

Ropers, HH

Mundlos, S

Ullmann, R

机构：

[1] Charite Univ Med Berlin, Inst Med Genet, D-13353 Berlin, Germany

[2] Charite Univ Med Berlin, Inst Human Genet, D-13353 Berlin, Germany

[3] Max Planck Inst Mol Genet, Berlin, Germany

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 08期

关键词：

8p; interstitial deletion; array-CGH;

D O I：

10.1002/ajmg.a.31163

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a girl with delayed mental and motor development, ophthalmological abnormalities, and peripheral neuropathy. Chromosome analysis suggested a deletion within chromosome 8p. Further investigation by array-based comparative genomic hybridization (array-CGH) delineated an 8 Mb interstitial deletion on the short arm of chromosome 8. The breakpoints are located at chromosome bands 8p12 and 8p21.2. Forty-two known genes including gonadotropin-releasing hormone I (GNRH1), transcription factor EBF2, exostosin-like 3 (EXTL3) glutathione reductase (GSR), and neuregulin I (NRG1), are located within the deleted region on chromosome 8p. A comparison Of our patient with the cases described in the literature is presented, and we discuss the genotype-phenotype correlation in our patient. This is the first report of array-CGH analysis of an interstitial deletion at chromosome 8p. (c) 2006 Wiley-Liss, Inc.

引用

收藏

页码：873 / 877

页数：5

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