Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker.
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.
Kulharya
A S
AS
Department of Pediatrics, Medical College of Georgia, Augusta 30912, USA. akulhary@mail.mcg.edu
Garcia-Heras
J
J
Radtke
H B
HB
Norris
K S
KS
Keppen
L D
LD
Flannery
D B
DB
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
D004276:DNA, Satellite