Document Detail


X-linked inheritance of Dandy-Walker variant.
MedLine Citation:
PMID:  11822699     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a family in which two sisters had three male fetuses with isolated Dandy-Walker variant (DWV) diagnosed on antenatal ultrasound. DWV is one part of a spectrum of abnormalities related to Dandy-Walker malformation (DWM) which commonly occur in association with other anomalies with or without chromosome abnormalities. The majority of cases are sporadic but rare reports of recurrence in siblings exist. This is the second report suggesting that isolated DWM/DWV can be inherited as an X-linked recessive trait.
Authors:
Emma L Wakeling; Matthew Jolly; Nicholas M Fisk; Caroline Gannon; Susan E Holder
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  11     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2002 Jan 
Date Detail:
Created Date:  2002-02-01     Completed Date:  2002-07-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  15-8     Citation Subset:  IM    
Affiliation:
Kennedy-Galton Centre, North West London Hospitals NHS Trust, Harrow, Middlesex, UK. e.wakeling@ic.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Adult
Cranial Fossa, Posterior / abnormalities,  ultrasonography
Dandy-Walker Syndrome / genetics*,  ultrasonography*
Family Health
Female
Genes, Recessive
Humans
Male
Pedigree
X Chromosome*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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