title: Prenatal diagnosis of ring chromosome 6.
abstract: An amniocentesis was performed on a gravida 1, para 0 23-year-old female because of high maternal serum alpha-fetoprotein and nuchal thickening/cystic mass apparent on the fetal ultrasound. Detailed ultrasound examination revealed multiple anomalies including brain abnormalities. The fetus was found to have a mosaic female karyotype: 45,XX, - 6/46,XX,r(6) (p25q27) (62 per cent:38 per cent). This is the first report of a prenatally diagnosed case of ring chromosome 6.
authors.affiliation: Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
authors.forename: A J
authors.initials: AJ
authors.lastname: Dawson
authors.forename: S L
authors.initials: SL
authors.lastname: Marles
authors.forename: C R
authors.initials: CR
authors.lastname: Harman
authors.forename: S
authors.initials: S
authors.lastname: Phillips
authors.forename: S
authors.initials: S
authors.lastname: Menticoglou
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D012303:Ring Chromosomes; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D000509:alpha-Fetoproteins