X-linked inheritance of Dandy-Walker variant

Wakeling, Emma L, Jolly, Matthew, Fisk, Nicholas M, Gannon, Caroline and Holder, Susan E (2002) X-linked inheritance of Dandy-Walker variant. Clinical Dysmorphology, 11 1: 15-18. doi:10.1097/00019605-200201000-00003


Author Wakeling, Emma L
Jolly, Matthew
Fisk, Nicholas M
Gannon, Caroline
Holder, Susan E
Title X-linked inheritance of Dandy-Walker variant
Journal name Clinical Dysmorphology   Check publisher's open access policy
ISSN 0962-8827
1473-5717
Publication date 2002-01-01
Year available 2002
Sub-type Article (original research)
DOI 10.1097/00019605-200201000-00003
Open Access Status
Volume 11
Issue 1
Start page 15
End page 18
Total pages 4
Place of publication U.K.
Publisher Lippincott Williams & Wilkins
Language eng
Subject 111401 Foetal Development and Medicine
111402 Obstetrics and Gynaecology
1114 Paediatrics and Reproductive Medicine
Formatted abstract
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.
(C) 2002 Lippincott Williams & Wilkins, Inc.
Keyword Dandy-Walker variant
Dandy-Walker malformation
Chromosome abnormalities
X-linked recessive trait
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
 
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Citation counts: TR Web of Science Citation Count  Cited 18 times in Thomson Reuters Web of Science Article | Citations
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Created: Thu, 19 Mar 2009, 20:17:21 EST by Maryanne Watson on behalf of Faculty Of Health Sciences