An unusual case of trisomy and triploidy in a chorion villus biopsy

A case is reported of a 35‐year‐old woman who underwent a chorion villus biopsy (CVB) at 17 weeks' gestation after intrauterine growth retardation and oligohydramnios were diagnosed by ultrasound scan. Chromosome analysis of the CVB direct preparations showed a 47,XX,+6 karyotype in all cells....

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Bibliographic Details
Published in:	Prenatal diagnosis Vol. 20; no. 11; pp. 917 - 920
Main Authors:	English, C. J., Atkey, N. W. S., Linton, G., Napier, C. J., Cameron, H. M., Mason, G. C., Murray, B. J.
Format:	Journal Article
Language:	English
Published:	Chichester, UK John Wiley & Sons, Ltd 01-11-2000 Wiley
Subjects:	Adult Biological and medical sciences Cells, Cultured chorion villus biopsy Chorionic Villi Sampling Chromosome aberrations Chromosome Aberrations - diagnosis Chromosome Disorders Chromosome Mapping Diseases of mother, fetus and pregnancy DNA - analysis Female Fetal Growth Retardation - diagnostic imaging Fetal Growth Retardation - genetics Gynecology. Andrology. Obstetrics Humans Karyotyping Male Medical genetics Medical sciences Mosaicism Oligohydramnios - diagnostic imaging Ploidies Pregnancy Pregnancy Trimester, Second Pregnancy. Fetus. Placenta triploid Trisomy trisomy 6 Ultrasonography, Prenatal ultrasound Chromosomal aberration Human Intrauterine growth retardation Trisomy Pregnancy disorders Aneuploidy Genetic determinism Case study Prenatal Fetal diseases Etiology Cytogenetics Chorionic villi sampling Fetus Oligoamnios Diagnosis Triploidy Karyotype
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Summary:	A case is reported of a 35‐year‐old woman who underwent a chorion villus biopsy (CVB) at 17 weeks' gestation after intrauterine growth retardation and oligohydramnios were diagnosed by ultrasound scan. Chromosome analysis of the CVB direct preparations showed a 47,XX,+6 karyotype in all cells. The pregnancy was terminated and subsequent analysis of cultured cells from both the CVB and the post‐mortem placenta showed three cell lines: 46,XX, 47,XX,+6 and 69,XXX, while fetal skin and muscle were entirely 69,XXX. An explanation is proposed for the origin and distribution of the three cell lines. Copyright © 2000 John Wiley & Sons, Ltd.
Bibliography:	istex:4C407A9D8D6369CE89465EA8E763B1AF2996DE11 ark:/67375/WNG-6XRHHPK4-1 ArticleID:PD937 Deceased. ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0197-3851 1097-0223
DOI:	10.1002/1097-0223(200011)20:11<917::AID-PD937>3.0.CO;2-9