Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

Abstract:

:Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here we report a patient with an interstitial 560 kb duplication overlapping this critical locus. The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies. Interestingly, the duplication phenotype overlaps partially with the deletion phenotype. However, his facial phenotype differs from the typical WHS gestalt.

journal_name

Eur J Med Genet

authors

Hannes F,Drozniewska M,Vermeesch JR,Haus O

doi

10.1016/j.ejmg.2010.02.004

subject

Has Abstract

pub_date

2010-05-01 00:00:00

pages

136-40

issue

3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(10)00011-X

journal_volume

53

pub_type

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