title: Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis.
abstract: Two rare de novo structural aberrations of the Y chromosome were detected during routine prenatal diagnosis: a satellited non-fluorescent Y chromosome (Yqs), the first de novo Yqs to be reported in a fetus, and a terminal deletion of the Y chromosome long arm del(Y)(q11). In both cases detailed cytogenetic and molecular analyses were undertaken. In the case of the Yqs it was demonstrated by fluorescence in situ hybridization (FISH) that the satellites were derived from chromosome 15. In the case of the del(Yq), it was shown with molecular analysis by polymerase chain reaction (PCR) amplification of sequence-tagged sites (STS-PCR) that the deleted portion of the long arm of chromosome Y included the azoospermia factor loci, AZFb and AZFc. The clinical significance of these findings is discussed.
authors: Cytogenetics Laboratory, Department of Genetics and Molecular Biology, Mitera Maternity and Surgical Center, Athens, Greece.
authors: V
authors: V
authors: Velissariou
authors: T
authors: T
authors: Antoniadi
authors: P
authors: P
authors: Patsalis
authors: S
authors: S
authors: Christopoulou
authors: A
authors: A
authors: Hatzipouliou
authors: J
authors: J
authors: Donoghue
authors: K
authors: K
authors: Bakou
authors: P
authors: P
authors: Kaminopetros
authors: V
authors: V
authors: Athanassiou
authors: M B
authors: MB
authors: Petersen
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D014998:Y Chromosome