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Eur J Med Genet. 2008 Mar-Apr;51(2):172-7. doi: 10.1016/j.ejmg.2007.12.002. Epub 2008 Jan 14.

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

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1
Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, France. j-andrieux@chru-lille.fr

Abstract

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.

PMID:
18222743
DOI:
10.1016/j.ejmg.2007.12.002
[Indexed for MEDLINE]
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