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 Genetjournal_title
European journal of medical geneticsauthors
Hannes F,Drozniewska M,Vermeesch JR,Haus Odoi
10.1016/j.ejmg.2010.02.004subject
Has Abstractpub_date
2010-05-01 00:00:00pages
136-40issue
3eissn
1769-7212issn
1878-0849pii
S1769-7212(10)00011-Xjournal_volume
53pub_type
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