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Updated: Jul 18, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p
J M De Pater1, J P Van Tintelen, R Stigter
1University Medical Center, Department of Medical Genetics, Utrecht, The Netherlands.
Abstract:
Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p: We report on a girl with multiple congenital abnormalities and a prenatally diagnosed 46,XX,14p+ de novo karyotype. Fluorescence in situ hybridization (FISH) demonstrated that the extra material on the short arm of chromosome 14 was not just a polymorphism, but that it originated from chromosome 17. The phenotypic findings of this patient with pure trisomy 17p are compared with those of ten previously published cases.
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