Document Detail

Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect.
MedLine Citation:
PMID:  16470696     Owner:  NLM     Status:  MEDLINE    
Trisomy 6 is seen in early miscarriages in association with an intact, empty amniotic sac or as a pseudomosaic in amniotic fluid cultures. We report the finding of mosaic trisomy 6 in a 23-week-gestation pregnancy terminated because of intrauterine death. The post-mortem showed a well formed macerated male fetus with an atrioventricular septal defect and an exomphalos. By conventional cytogenetics, trisomy 6 was found in 12 out of 25 (48%) fibroblast colonies from fetal skin and 21 out of 32 (66%) colonies derived from amnion, while the remaining metaphases showed an apparently normal male karyotype. Molecular genetic studies on DNA from uncultured fetal skin and cord samples using polymorphic microsatellite repeat sequences showed no evidence of trisomy 6, but demonstrated that both chromosome 6 homologs were of maternal origin consistent with maternal uniparental disomy (UPD).
Annette E Cockwell; Samantha J Baker; Margaret Connarty; Isabella E Moore; John A Crolla
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  140     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-02-21     Completed Date:  2006-05-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  624-7     Citation Subset:  IM    
Copyright Information:
2006 Wiley-Liss, Inc.
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom.
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MeSH Terms
Chromosomes, Human, Pair 6 / genetics*
Fatal Outcome
Fetal Death
Fetal Diseases / pathology
Fetus / metabolism,  pathology
Gestational Age
Heart Septal Defects / pathology*
Heart Septal Defects, Atrial / pathology
Heart Septal Defects, Ventricular / pathology
In Situ Hybridization, Fluorescence
Uniparental Disomy*

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