PRENATAL-DIAGNOSIS OF A TRISOMY 17P DERIVED FROM A DE-NOVO NON-MOSAICSATELLITED MARKER

Citation
As. Kulharya et al., PRENATAL-DIAGNOSIS OF A TRISOMY 17P DERIVED FROM A DE-NOVO NON-MOSAICSATELLITED MARKER, Clinical genetics, 54(5), 1998, pp. 421-425
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
54
Issue
5
Year of publication
1998
Pages
421 - 425
Database
ISI
SICI code
0009-9163(1998)54:5<421:POAT1D>2.0.ZU;2-T
Abstract
A trisomy 17pter --> p11.2 derived from a supernumerary de novo satell ited marker was identified by GTG bands and fluorescent in situ hybrid isation (FISH) in amniocytes of a fetus with malformations and intraut erine growth retardation (IUGR). At 39 weeks a male infant with a phen otype similar to other postnatal cases of 'pure' complete trisomy 17p was born. Some additional clinical features, however, make him more se verely affected than previous patients.