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

Abstract:

: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 75Kb oligo's were normal, excluding Wolf-Hirschhorn syndrome. Long-term follow-up revealed psychiatric manifestations starting at young age.

journal_name

Eur J Med Genet

authors

Priolo M,Ciccone R,Bova I,Campolo G,Laganà C,Zuffardi O

doi

10.1016/j.ejmg.2006.10.004

subject

Has Abstract

pub_date

2007-03-01 00:00:00

pages

139-43

issue

2

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(06)00104-2

journal_volume

50

pub_type

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