Microdeletion Syndrome 16p11.2-p12.2: Clinical and Molecular Characterization

被引：27

作者：

Hempel, Maja ^{[1
,3
]}

Brugues, Nuria Rivera ^{[1
,3
]}

Wagenstaller, Janine ^{[1
,3
]}

Lederer, Gaby ^{[1
]}

Weitensteiner, Andrea ^{[2
]}

Seidel, Heide ^{[1
,4
]}

Meitinger, Thomas ^{[1
,3
]}

Strom, Tim M. ^{[1
,3
]}

机构：

[1] Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany

[2] Tech Univ Munich, Dept Pediat, D-81675 Munich, Germany

[3] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany

[4] Univ Munich, Inst Human Genet, Munich, Germany

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 10期

关键词：

microdeletion; 16p11.2-p12.2; facial manifestation; feeding problems; speech delay; ear infection; SNP oligonucleotide array; MENTAL-RETARDATION; POLYMORPHISM; AUTISM;

D O I：

10.1002/ajmg.a.33042

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p12.2. All reported patients so far share a common distal breakpoint at 16p12.2 but vary in the proximal breakpoint at 16p11.2. The microdeletion 16p11.2-p12.2 should be distinguished from the similar to 500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay. (c) 2009 Wiley-Liss, Inc.

引用

页码：2106 / 2112

页数：7

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