Malpuech syndrome:: Broadening the clinical spectrum and molecular analysis by array-CGH

被引：4

作者：

Priolo, Manuela

Ciccone, Roberto

Bova, Irene

Campolo, Giovanna

Lagana, Carmelo

Zuffardi, Orsetta

机构：

[1] Az Osped Bianchi Melacrino Morelli, Hosp Reggio Calabria, Operat Unit Med Genet, I-89100 Reggio Di Calabria, Italy

[2] Univ Pavia, I-27100 Pavia, Italy

[3] Asl 11 Dipartimento Neuropsichiat Infantile, Reggio Di Calabria, Italy

[4] Policlin San Matteo, IRCCS, I-27100 Pavia, Italy

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2007年 / 50卷 / 02期

关键词：

Malpuech syndrome; cleft lip/palate; hearing loss; microarray-CGH analysis;

D O I：

10.1016/j.ejmg.2006.10.004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a patient with mental and growth retardation, bilateral cleft lip and palate, hypertelorism, ptosis, hearing loss and mild epispadias, suggestive of Malpuech syndrome. High-resolution karyotype and microarray-CGH using an oligonucleotide array with 75 Kb oligo's were normal, excluding Wolf-Hirschhorn syndrome. Long-term follow-up revealed psychiatric manifestations starting at young age. (c) 2006 Elsevier Masson SAS. All rights reserved.

引用

页码：139 / 143

页数：5

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