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

Autor:	C J, English, N W, Atkey, G, Linton, C J, Napier, H M, Cameron, G C, Mason, B J, Murray
Rok vydání:	2000
Předmět:	Adult Chromosome Aberrations Male Fetal Growth Retardation Ploidies Mosaicism Chromosome Mapping Chromosome Disorders Trisomy DNA Oligohydramnios Ultrasonography Prenatal Chorionic Villi Sampling Pregnancy Karyotyping Pregnancy Trimester Second Humans Female Cells Cultured
Zdroj:	Prenatal diagnosis. 20(11)
ISSN:	0197-3851
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::cdca62f337ad44ec441f4f40b393c2c7 https://pubmed.ncbi.nlm.nih.gov/11113896 Zobrazit plný text záznamu Plný text