Oculo-Auriculo-Vertebral Spectrum, Cat Eye, and Distal 22q11 Microdeletion Syndromes: A Unique Double Rearrangement

被引：18

作者：

Torti, Erin E. ^{[1
]}

Braddock, Stephen R. ^{[1
]}

Bernreuter, Kristen ^{[2
]}

Batanian, Jacqueline R. ^{[1
]}

机构：

[1] St Louis Univ, Dept Pediat, Div Med Genet, Sch Med, St Louis, MO 63104 USA

[2] St Louis Univ, Cardinal Glennon Childrens Hosp, Mol Cytogenet Lab, St Louis, MO 63104 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161卷 / 08期

关键词：

distal 22q deletion; cat eye; facio-auriculo-vertebral; hemifacial microsomia; oculo-auriculo-vertebral; PHENOTYPIC VARIABILITY; GOLDENHAR-SYNDROME; DELETION; MOSAICISM; FEATURES; CHILD; DUPLICATION; DEFECTS;

D O I：

10.1002/ajmg.a.35918

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An array-CGH on 19-year-old male showed a proximal 1.11?Mb duplication and a distal 1.7?Mb deletion of 22q11.2 regions flanking the Velocardiofacial/DiGeorge syndrome region that remained intact. FISH analyses revealed both abnormalities to be on the same homolog 22. This double rearrangement lead to the co-existence of two syndromes: Cat eye and distal 22q11.2 microdeletion syndromes with a rare associated phenotype of oculo-auriculo-vertebral spectrum (OAVS). A review of the literature indicates that this is the second report of a proximal duplication and the fifth report of a distal deletion and OAVS suggestive of a possible OAVS candidate gene in this region. (c) 2013 Wiley Periodicals, Inc.

引用

页码：1992 / 1998

页数：7

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