Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

被引：29

作者：

Andrieux, Joris ^{[1
]}

Lepretre, Frederic ^{[2
]}

Cuisset, Jean-Marie ^{[3
]}

Goldenberg, Alice ^{[6
]}

Delobel, Bruno ^{[4
]}

Manouvrier-Hanu, Sylvie ^{[5
]}

Holder-Espinasse, Muriel ^{[5
]}

机构：

[1] CHRU Lille, Hop Jean Flandre, Med Genet Lab, Lille, France

[2] Univ Lille 2, INSERM, U837, Lille, France

[3] CHRU, Hop Salengro, Serv Neuropediat, Lille, France

[4] GHICL, Hop St Vincent de Paul, Ctr Genet Chromosom, Lille, France

[5] CHRU Lille, Hop Jean Flandre, Serv Genet Clin, Lille, France

[6] CHU, Serv Genet Clin, Rouen, France

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2008年 / 51卷 / 02期

关键词：

18q21; deletion; TCF4; pitt-hopkins syndrome; thick helix;

D O I：

10.1016/j.ejmg.2007.12.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 12 year-old boy presenting with severe developmental delay, dysmorphic features, limb anomalies, growth retardation, hypoplastic vermis and corpus callosum. Conventional and high-resolution cytogenetic analyses were normal. CGH-array allowed characterisation of a de novo 6.2 Mb 18q21.2q21.32 interstitial deletion involving TCF4, the recently identified gene responsible for Pitt-Hopkins syndrome (PHS). No tachypnoea-apnoea paroxysms were observed. We discuss the dysmorphic features particularly involving the ears, which might be helpful towards PHS and 18q21 deletion diagnosis. (c) 2007 Elsevier Masson SAS. All rights reserved.

引用

页码：172 / 177

页数：6

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