Molecular Characterization of a Patient With an Interstitial 1q Deletion [del(1)(q24.1q25.3)] and Distinctive Skeletal Abnormalities

被引：19

作者：

Descartes, Maria ^{[1
]}

Hain, Julie Zenger ^{[2
]}

Conklin, Michael ^{[3
]}

Franklin, Judy ^{[1
]}

Mikhail, Fady M. ^{[1
]}

Lachman, Ralph S. ^{[4
]}

Nolet, Serge ^{[5
]}

Messiaen, Ludwine M. ^{[1
]}

机构：

[1] Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA

[2] Oakwood Labs, Dept Cytogenet, Dearborn, MI USA

[3] Univ Alabama Birmingham, Dept Surg & Orthopaed, Birmingham, AL 35294 USA

[4] Univ Calif Los Angeles, Sch Med, Dept Genet, Los Angeles, CA USA

[5] Dept Pathol, Lab Pathol Mol, Paris, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 22期

关键词：

interstitial 1q deletion; critical region; multiple congenital anomalies; skeletal findings;

D O I：

10.1002/ajmg.a.32550

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Were we report on a patient with an interstitial deletion on the long(q) arm of chromosome 1 who presents with a unique constellation of anomalies including brachydactyly type E. Mullerian agenesis, growth hormone deficiency, as well as other abnormalities. We present the clinical details of this patients presentation, the skeletal findings, and provide characterization of the deletion at the molecular level. We postulate that these skeletal anomalies are distinctive to 1q deletions involving the 1q24q25 region. (C) 2008 Wiley-Liss, Inc.

引用

页码：2937 / 2943

页数：7

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