Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Home
Search
Quick Search
Advanced
Fulltext
Browse
Collections
Persons
My eDoc
Session History
Login
Name:
Password:
Documentation
Help
Support Wiki
Direct access to
document ID:


          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



  history
ID: 411235.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome
Authors:So, Joyce; Müller, Ines; Kunath, Melanie; Herrmann, Susanne; Ullmann, Reinhard; Schweiger, Susann
Language:English
Research Context:Clinical Report
Date of Publication (YYYY-MM-DD):2008-01
Title of Journal:American Journal of Medical Genetics Part A
Journal Abbrev.:Am J Med Genet A
Volume:146A
Issue / Number:1
Start Page:103
End Page:109
Copyright:© 2009 Wiley-Liss, Inc., A Wiley Company
Review Status:not specified
Audience:Experts Only
Abstract / Description:Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and cardiac defects. The X-linked form is caused by mutations in the MID1 gene, while no gene has yet been identified for the autosomal dominant form. Here, we report on a 15-year-old boy who was referred for MID1 mutation analysis with findings typical of OS, including apparent hypertelorism, hypospadias, a history of feeding difficulties, dysphagia secondary to esophageal arteria lusoria, growth retardation and developmental delay. No MID1 mutation was found, but subsequent sub-megabase resolution array CGH unexpectedly documented a 2.34 Mb terminal 4p deletion, suggesting a diagnosis of WHS, and a duplication in Xp22.31. Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving terminal chromosome 4p deletions, in particular 4p16.3. WHS is characterized by typical facial appearance (Greek helmet facies), mental retardation, congenital hypotonia, and growth retardation. While the severity of developmental delay in this patient supports the diagnosis of WHS rather than OS, this case illustrates the striking similarities of clinical findings in seemingly unrelated syndromes, suggesting common or interacting pathways at the molecular and pathogenetic level. This is the first report of arteria lusoria (esophageal vascular ring) in a patient with WHS.
Free Keywords:Wolf-Hirschhorn syndrome • Opitz G/BBB syndrome
Comment of the Author/Creator:email: Reinhard Ullmann (ullmann@molgen.mpg.de)
Correspondence to Reinhard Ullmann, Max Planck Institute for Molecular Genetics, Ihnestr. 73, 14195 Berlin, Germany.
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Children's Hospital, Friedrich Schiller University, Jena, Germany;
2.Charité Hospital, Department of Dermatology, Berlin, Germany.
Identifiers:URL:http://www3.interscience.wiley.com/cgi-bin/fulltex...
DOI:10.1002/ajmg.a.32055
Full Text:
Sorry, no privileges
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.