Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23‐week gestation fetus with atrioventricular septal defect

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 macerat...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2006-03, Vol.140A (6), p.624-627
Main Authors: Cockwell, Annette E., Baker, Samantha J., Connarty, Margaret, Moore, Isabella E., Crolla, John A.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cardiology. Vascular system
Chromosome aberrations
Chromosomes, Human, Pair 6 - genetics
Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava
Fatal Outcome
Female
Fetal Death
Fetal Diseases - pathology
Fetus - metabolism
Fetus - pathology
Gestational Age
Heart
Heart Septal Defects - pathology
Heart Septal Defects, Atrial - pathology
Heart Septal Defects, Ventricular - pathology
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
mat UPD6
Medical genetics
Medical sciences
Mosaicism
Mothers
rare trisomy mosaicism
Trisomy
trisomy 6
trisomy rescue
Uniparental Disomy
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Summary: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). © 2006 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31129