title: Two cases of Y; autosome translocations: A 45,X male and a clinically trisomy 18 patient.
abstract: We report on 2 cases of Y; autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y-chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time.
authors.affiliation: Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Brazil.
authors.forename: S B
authors.initials: SB
authors.lastname: Farah
authors.forename: C F
authors.initials: CF
authors.lastname: Ramos
authors.forename: M P
authors.initials: MP
authors.lastname: de Mello
authors.forename: E L
authors.initials: EL
authors.lastname: Sartorato
authors.forename: N
authors.initials: N
authors.lastname: Horelli-Kuitunen
authors.forename: V L
authors.initials: VL
authors.lastname: Lopes
authors.forename: D P
authors.initials: DP
authors.lastname: Cavalcanti
authors.forename: C
authors.initials: C
authors.lastname: Hackel
mesh_terms: D001483:Base Sequence; D002478:Cells, Cultured; D002648:Child; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D002887:Chromosomes, Human, Pair 18; D017931:DNA Primers; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D014178:Translocation, Genetic; D014314:Trisomy; D014998:Y Chromosome
chemical_list: D017931:DNA Primers