title: Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p.
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.
authors.affiliation: University Medical Center, Department of Medical Genetics, Utrecht, The Netherlands.
authors.forename: J M
authors.initials: JM
authors.lastname: De Pater
authors.forename: J P
authors.initials: JP
authors.lastname: Van Tintelen
authors.forename: R
authors.initials: R
authors.lastname: Stigter
authors.forename: H A
authors.initials: HA
authors.lastname: Brouwers
authors.forename: J M
authors.initials: JM
authors.lastname: Scheres
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics*; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011110:Polymorphism, Genetic / Q000235:genetics*; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000235:genetics*