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
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.