title: Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion.
abstract: Male individuals with a 46,XX karyotype have been designated as XX males. In 80% of the cases, the presence of Yp sequences, including the male sex-determining gene, SRY, has been demonstrated by molecular and/or fluorescence in situ hybridization (FISH) analyses. In most cases, Yp sequences are located on the short arm of the X chromosome, resulting from unequal recombination between Yp and Xp during paternal meiosis. Much less frequent in XX males is the localization of the SRY gene to an autosome. Here we report on the genetic investigation of an atypical XX male in which the SRY gene was located at the end of the long arm of chromosome 1. The patient, with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Molecular-cytogenetics (FISH) and molecular (PCR and MLPA) studies identified not only Yp-specific sequences located on the distal long arm of chromosome 1 but also the deletion of the subtelomeric 1qter region. A specific phenotype has been reported for a deletion of the 1qter region associated with mental retardation. The molecular investigation of the 1qter region showed that in our patient the microdeletion is more telomeric than in patients reported with mental retardation. To our knowledge, this is the first report of a XX male with the Yp region transferred to the terminal long arm of chromosome 1. This is also the first microdeletion of the subtelomeric 1qter region not associated with mental retardation.
authors.affiliation: Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.
authors.forename: Rosa
authors.initials: R
authors.lastname: Queralt
authors.forename: Irene
authors.initials: I
authors.lastname: Madrigal
authors.forename: M Angeles
authors.initials: MA
authors.lastname: Vallecillos
authors.forename: Carme
authors.initials: C
authors.lastname: Morales
authors.forename: José-Luis
authors.initials: JL
authors.lastname: Ballescá
authors.forename: Rafael
authors.initials: R
authors.lastname: Oliva
authors.forename: Anna
authors.initials: A
authors.lastname: Soler
authors.forename: Aurora
authors.initials: A
authors.lastname: Sánchez
authors.forename: Ester
authors.initials: E
authors.lastname: Margarit
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods; D051876:Sex-Determining Region Y Protein / Q000235:genetics*; D016615:Telomere
chemical_list: C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein