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. 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.
English
C J
CJ
Regional Genetics Service, 20 Claremont Place, Newcastle upon Tyne, UK.C.J.English@nc.ac.uk
Atkey
N W
NW
Linton
G
G
Napier
C J
CJ
Cameron
H M
HM
Mason
G C
GC
Murray
B J
BJ
D000328:Adult; D002478:Cells, Cultured; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D016104:Oligohydramnios / Q000000981:diagnostic imaging; D011003:Ploidies; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D014314:Trisomy; D016216:Ultrasonography, Prenatal
D004247:DNA