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

Lookup NU author(s): Dr Carol English, Dr Christina Napier

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Abstract

A case is reported of 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 postmortem 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 (C) 2000 John Wiley & Sons, Ltd.

Publication metadata

Author(s): English CJ, Atkey NWS, Linton G, Napier CJ, Cameron HM, Mason GC, Murray BJ

Publication type: Article

Publication status: Published

Journal: Prenatal Diagnosis

Year: 2000

Volume: 20

Issue: 11

Pages: 917-920

ISSN (print): 0197-3851

ISSN (electronic): 1097-0223

Publisher: John Wiley & Sons

URL: http://dx.doi.org/10.1002/1097-0223(200011)20:11<917::AID-PD937>3.0.CO;2-9

DOI: 10.1002/1097-0223(200011)20:11<917::AID-PD937>3.0.CO;2-9

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