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Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

Item Type:Article
Title:Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
Creators Name:Wieczorek, D. and Krause, M. and Majewski, F. and Albrecht, B. and Horn, D. and Riess, O. and Gillessen-Kaesbach, G.
Abstract:We performed clinical, cytogenetic, and molecular analyses on 13 patients (8 females and 5 males, aged 6 months to 13 years) with Wolf-Hirschhorn syndrome due to de novo deletions of chromosome 4p. All patients presented with the typical facial gestalt, microcephaly, and profound mental retardation. Other clinical signs were low birth weight (10/13; 77%), postnatal short stature (8/12; 66%), muscular hypotonia (12/13; 92%), seizures (11/13; 85%), congenital heart defects (4/13; 31%), colobomata of iris (4/12; 33%), genital anomalies (4/13; 31%), deafness (3/13; 23%), and renal anomalies (3/13; 23%). The smallest deletion was a submicroscopic terminal deletion of nearly 2.5 Mb. The largest was a terminal deletion of nearly 30 Mb. Cleft lip/palate, preauricular pits/tags, and congenital heart defects were present only in patients with terminal deletions larger than 10 Mb. The deviations from mean birth weight, birth length, and postnatal head circumference correlated with the size of the deletion. Determining the parental origin of the deletion with microsatellite markers, the maternal allele was missing in three patients and the paternal allele in eight patients. Our observations support the existence of a partial genotype-phenotype correlation in Wolf-Hirschhorn syndrome.
Keywords:Wolf-Hirschhorn Syndrome, Deletion Size, Clinical Manifestation, De Novo Deletion, Parental Origin Of Deletion
Source:European Journal of Human Genetics
ISSN:1018-4813
Publisher:Nature Publishing Group (U.K.)
Volume:8
Number:7
Page Range:519-526
Date:July 2000
Official Publication:http://www.nature.com/ejhg/journal/v8/n7/abs/5200498a.html
PubMed:View item in PubMed

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