Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p

Citation
Jm. De Pater et al., Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p, GEN COUNSEL, 11(3), 2000, pp. 241-247
Citations number
14
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETIC COUNSELING
ISSN journal
10158146 → ACNP
Volume
11
Issue
3
Year of publication
2000
Pages
241 - 247
Database
ISI
SICI code
1015-8146(2000)11:3<241:PASAIP>2.0.ZU;2-Y
Abstract
Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 po lymorphism, but trisomy 17p: we report on a girl with multiple congenital a bnormalities and a prenatally diagnosed 46,XX.14p+ de novo karyotype. Fluor escence in situ hybridization (FISH) demonstrated that the extra material o n the short arm of chromosome 14 was not just a polymorphism, but that it o riginated from chromosome 17. The phenotypic findings of this patient with pure trisomy 17p are compared with those of ten previously published cases.