Document Detail


Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report.
MedLine Citation:
PMID:  15503289     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: The presentation of sonographic and perinatal findings of tetrasomy 9p. METHODS AND RESULTS: Chorionic villus sampling and amniocentesis were performed at 19 weeks of gestation because of the sonographic findings of Dandy-Walker malformation with bilateral ventriculomegaly. Cytogenetic analysis showed 47,XX,+i psu dic(9)(pter->q12::q12>-pter). The pregnancy was terminated at 20 weeks of gestation at the request of the parents. At post-mortem examination, the presumed hypoplasia of the vermis could not be confirmed for technical reasons. No other pathological findings were seen. CONCLUSION: From our experience and from the literature, we conclude that Dandy-Walker malformation is an important finding in tetrasomy 9p. Chromosomal studies should be carried out in fetuses with sonographically detected Dandy-Walker malformation, even in the absence of other abnormalities.
Authors:
K L Deurloo; J M Cobben; Y M Heins; M de Ru; L C D Wijnaendts; J M G van Vugt
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  24     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2004 Oct 
Date Detail:
Created Date:  2004-11-01     Completed Date:  2005-04-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  796-8     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2004 John Wiley & Sons, Ltd.
Affiliation:
Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Adult
Amniotic Fluid / cytology
Aneuploidy
Chromosomes, Human, Pair 9*
Cytogenetic Analysis / methods*
Dandy-Walker Syndrome / diagnosis*,  embryology,  genetics,  ultrasonography
Female
Fetal Diseases / diagnosis*,  genetics,  ultrasonography
Gestational Age
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Pregnancy
Prenatal Diagnosis*
Ultrasonography, Prenatal / methods

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


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