A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions

被引：22

作者：

Baynam, Gareth

Goldblatt, Jack

Townshend, Sharron

机构：

[1] Genet Serv Western Australia, Subiaco, WA 6008, Australia

[2] Univ Western Australia, Sch Paediat & Child Hlth, Perth, WA 6009, Australia

来源：

CLINICAL DYSMORPHOLOGY | 2006年 / 15卷 / 03期

关键词：

3q29; deletions; 3qter deletions; subtelomeric deletions;

D O I：

10.1097/01.mcd.0000198934.55071.ee

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A further case of 3q29 deletion, in a 13-year-old boy, is described and compared with previous reports. Our case shares a number of dysmorphic and neurodevelopmental features with previously reported individuals with 3q29 microdeletion and is the second reported case with deceleration in head growth - which may be a useful diagnostic clue. Novel features, which may expand the phenotype, include nasal voice, six lumbar vertebrae, lower limb contractures and cerebral sigmoid venous thrombosis. Additionally, cases with cytogenetically visible terminal 3q deletions are reviewed.

引用

页码：145 / 148

页数：4

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