title: Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male.
abstract: A chromosome mosaicism with two cell lines was diagnosed in a sterile man. One cell line had a 45, -Y, dup (X) (p22.2) karyotype and accounted for 83% of lymphocytes analyzed. Fluorescence in situ hybridization (FISH) analysis with specific X and Y probes excluded a translocation between the short arms of the X and Y chromosomes and showed that Xp duplication involved a region containing the DXS85 locus, distal to the ZFX and DSS sites. The other cell line consisted of a diploid karyotype with a rearranged Y chromosome, which was shown to be a pseudoisodicentric Yq by FISH. Moreover, FISH with a specific probe for the AZF locus and polymerase chain reaction using Yq SY108 and SY121 primers showed no signals for this region, possibly accounting for the azoospermia in this patient.
authors.affiliation: Istituti di Biologia e Genetica, CNR Chieti, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Palka
authors.forename: G
authors.initials: G
authors.lastname: Calabrese
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: P
authors.initials: P
authors.lastname: Guanciali Franchi
authors.forename: L
authors.initials: L
authors.lastname: Stuppia
authors.forename: E
authors.initials: E
authors.lastname: Morizio
authors.forename: R
authors.initials: R
authors.lastname: Peila
authors.forename: A
authors.initials: A
authors.lastname: Antonucci
mesh_terms: D000328:Adult; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009845:Oligospermia / Q000235:genetics; D016133:Polymerase Chain Reaction; D014960:X Chromosome; D014998:Y Chromosome