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An unusual case of trisomy and triploidy in a chorion villus biopsy
Author(s) -
English C. J.,
Atkey N. W. S.,
Linton G.,
Napier C. J.,
Cameron H. M.,
Mason G. C.,
Murray B. J.
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200011)20:11<917::aid-pd937>3.0.co;2-9
Subject(s) - oligohydramnios , trisomy , karyotype , biopsy , fetus , gestation , placenta , gynecology , medicine , pregnancy , aneuploidy , chorionic villi , obstetrics , amniocentesis , prenatal diagnosis , pathology , andrology , chromosome , biology , genetics , gene
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.