title: Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker.
abstract: A trisomy 17pter --> p11.2 derived from a supernumerary de novo satellited marker was identified by GTG bands and fluorescent in situ hybridisation (FISH) in amniocytes of a fetus with malformations and intrauterine growth retardation (IUGR). At 39 weeks a male infant with a phenotype similar to other postnatal cases of 'pure' complete trisomy 17p was born. Some additional clinical features, however, make him more severely affected than previous patients.
authors.affiliation: Department of Pediatrics, Medical College of Georgia, Augusta 30912, USA. akulhary@mail.mcg.edu
authors.forename: A S
authors.initials: AS
authors.lastname: Kulharya
authors.forename: J
authors.initials: J
authors.lastname: Garcia-Heras
authors.forename: H B
authors.initials: HB
authors.lastname: Radtke
authors.forename: K S
authors.initials: KS
authors.lastname: Norris
authors.forename: L D
authors.initials: LD
authors.lastname: Keppen
authors.forename: D B
authors.initials: DB
authors.lastname: Flannery
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002886:Chromosomes, Human, Pair 17; D004276:DNA, Satellite; D005315:Fetal Diseases / Q000235:genetics*; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D008297:Male; D011296:Prenatal Diagnosis; D014314:Trisomy
chemical_list: D004276:DNA, Satellite