期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 51, 期 2, 页码 172-177出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2007.12.002
关键词
18q21 deletion; TCF4; pitt-hopkins syndrome; thick helix
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.
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