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  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

So, J., Müller, I., Kunath, M., Herrmann, S., Ullmann, R., & Schweiger, S. (2008). 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. American Journal of Medical Genetics Part A, 146A(1), 103-109. doi:10.1002/ajmg.a.32055.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-80BA-9 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-80BB-7
Genre: Journal Article
Alternative Title : Am J Med Genet A

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 Creators:
So, Joyce1, Author              
Müller, Ines2, Author              
Kunath, Melanie3, Author
Herrmann, Susanne, Author
Ullmann, Reinhard2, Author              
Schweiger, Susann1, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
3Max Planck Society, ou_persistent13              

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Free keywords: Wolf-Hirschhorn syndrome • Opitz G/BBB syndrome
 Abstract: 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.

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Language(s): eng - English
 Dates: 2008-01
 Publication Status: Published in print
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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet A
Source Genre: Journal
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Pages: - Volume / Issue: 146A (1) Sequence Number: - Start / End Page: 103 - 109 Identifier: -