Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn

The first case of a fetal trisomy 6 mosaicism proven at 25 weeks of gestation by analysis of fetal urine cells is described. Chromosomal analysis was indicated by an ultrasonographically diagnosed heart defect at 21 weeks of gestation. The chromosomal aberration was detected in amniotic fluid cells...

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Bibliographic Details
Published in:American journal of medical genetics 2004-01, Vol.124A (1), p.85-88
Main Authors: Wegner, Rolf‐Dieter, Entezami, Michael, Knoll, Ute, Horn, Denise, Sohl, Susanne, Becker, Rolf
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chromosome aberrations
Chromosomes, Human, Pair 6 - genetics
Female
fetal chromosome aberration
fetal urine cells
Foot Deformities, Congenital - genetics
Foot Deformities, Congenital - pathology
Hand Deformities, Congenital - genetics
Hand Deformities, Congenital - pathology
Heart Defects, Congenital - genetics
Humans
Infant, Newborn
Male
Medical genetics
Medical sciences
Mosaicism
Phenotype
Pregnancy
Pregnancy Trimester, Second
Prenatal Diagnosis
Trisomy - diagnosis
trisomy 6
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Summary:The first case of a fetal trisomy 6 mosaicism proven at 25 weeks of gestation by analysis of fetal urine cells is described. Chromosomal analysis was indicated by an ultrasonographically diagnosed heart defect at 21 weeks of gestation. The chromosomal aberration was detected in amniotic fluid cells while fetal blood cells showed a normal chromosome set. At term a boy with normal growth parameter was born. In addition to the expected heart defect, malformations of hands and feet were present. © 2003 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.20407