title: Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis.
abstract: A newborn is described in whom trisomy 12 mosaicism was detected prenatally at third trimester amniocentesis during the fourth pregnancy of a 34-year-old woman. After birth, trisomy 12 cells were found in placental tissue and in cultured urine sediment cells. A sample of cord blood and a skin biopsy revealed only normal (46,XX) cells. Both parents had a normal karyotype. After a difficult start with unexplained hypoglycaemias and convulsion equivalents, the girl is doing well at the age of 9 months: there are no signs of central motor disturbance. The importance of the use of cultured urine sediment cells in confirming chromosomal mosaicism is stressed.
authors.affiliation: Department of Human Genetics, University of Amsterdam, The Netherlands.
authors.forename: N J
authors.initials: NJ
authors.lastname: Leschot
authors.forename: E J
authors.initials: EJ
authors.lastname: Wilmsen-Linders
authors.forename: H P
authors.initials: HP
authors.lastname: van Geijn
authors.forename: J F
authors.initials: JF
authors.lastname: Samsom
authors.forename: L M
authors.initials: LM
authors.lastname: Smit
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D014314:Trisomy; D014556:Urine / Q000166:cytology*