title: Outcome of prenatally diagnosed trisomy 6 mosaicism.
abstract: We report the prenatal diagnosis of trisomy 6 mosaicism via amniocentesis, in which trisomy 6 cells were identified in three of five culture vessels with 33% (5/15) of colonies showing trisomic cells. The pregnancy was electively terminated and examination revealed minor abnormalities (shortening of the femurs, micrognathia, posterior malrotation of the ears, and bilateral camptomelia of the second digit of the hands and fifth digits of the feet). Cytogenetic analysis of the placenta showed trisomy 6 in 100% of 20 cells studied. Karyotype was 46,XX in 100 cells examined from fetal skin. There are relatively few prenatally diagnosed cases of mosaic trisomy 6 at amniocentesis. Confined placental mosaicism (CPM) has been postulated in other cases where follow-up cytogenetic studies were not available. The present case differs from those previously reported, as it appears to represent CPM of chromosome 6 with phenotypic effects to the fetus.
authors.affiliation: Genetics Service, Department of Pediatrics, Hackensack University Medical Center, Hackensack, NJ 07601, USA. rwallerstein@humed.com
authors.forename: Robert
authors.initials: R
authors.lastname: Wallerstein
authors.forename: Tracey
authors.initials: T
authors.lastname: Oh
authors.forename: Judy
authors.initials: J
authors.lastname: Durcan
authors.forename: Yaakov
authors.initials: Y
authors.lastname: Abdelhak
authors.forename: Mark
authors.initials: M
authors.lastname: Clachko
authors.forename: Hana
authors.initials: H
authors.lastname: Aviv
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry / Q000166:cytology; D002478:Cells, Cultured; D002896:Chromosomes, Human, Pair 6; D000013:Congenital Abnormalities / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging / Q000196:embryology; D020567:Fetal Weight; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010920:Placenta / Q000166:cytology; D011247:Pregnancy; D011256:Pregnancy Outcome; D012867:Skin / Q000166:cytology / Q000196:embryology; D014314:Trisomy; D014463:Ultrasonography; D024182:Uniparental Disomy