title: [Chromosome abnormalities in hypospadias? An analysis of 131 patients].
abstract: We performed chromosome studies in 131 patients presenting with hypospadias, with the aim of detecting any causal connections between chromosomal abnormalities and the induction of hypospadias. Autosomal abnormalities were revealed in 6 and sex chromosomal abnormalities in 10 patients. Although a significant causal relationship between the occurrence of hypospadias and chromosomal abnormalities was seen in this study in only two cases of mixed gonadal dysgenesis (45,X/46,XY and streak gonad), the high incidence of chromosomal abnormalities observed (12.2%) seems noteworthy compared with the incidence of only 0.61% in the normal male population.
authors.affiliation: Urologische Klinik, Medizinischen Hochschule Hyogo, Nishinomiya, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Yabumoto
authors.forename: J
authors.initials: J
authors.lastname: Fichtner
authors.forename: H
authors.initials: H
authors.lastname: Shima
authors.forename: F
authors.initials: F
authors.lastname: Ikoma
authors.forename: H
authors.initials: H
authors.lastname: Sakamoto
authors.forename: J
authors.initials: J
authors.lastname: Furuyama
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome
vernacular_title: Chromosomenstörungen bei Hypospadien? Eine Analyse bei 131 Patienten.