title: Absence of Y chromosome microdeletions in patients with cryptorchidism and hypospadias.
abstract: Microdeletions of the Y chromosome have been observed in some patients with cryptorchidism and severe defects of spermatogenesis. We investigated whether microdeletions of the Y chromosome may be present in patients with cryptorchidism and hypospadias. Peripheral blood was obtained from 20 male patients 5.8 +/- 4.1 years (range: 0.4-14 years) with cryptorchidism and hypospadias for somatic DNA analysis of Y chromosome using multiplex polymerase chain reaction. These patients had no identifiable genetic syndrome, other genitourinary malformations or an abnormal karyotype. We evaluated the presence or absence of amplification using a set of 34 different sequence-tagged sites (STS) in each patient. All patients showed normal length amplifications for each of the regions evaluated, suggesting that microdeletions of the Y chromosome are not a frequent cause of hypospadias associated with cryptorchidism.
authors.affiliation: Institute of Maternal and Child Research, University of Chile, Santiago, Chile.
authors.forename: Andrea
authors.initials: A
authors.lastname: Castro
authors.forename: Ethel
authors.initials: E
authors.lastname: Codner
authors.forename: Heidy
authors.initials: H
authors.lastname: Kaune
authors.forename: Patricia
authors.initials: P
authors.lastname: López
authors.forename: David
authors.initials: D
authors.lastname: Vantman
authors.forename: Fernando
authors.initials: F
authors.lastname: Cassorla
mesh_terms: D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000097:blood; D002648:Child; D002675:Child, Preschool; D006063:Chorionic Gonadotropin; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D003456:Cryptorchidism / Q000235:genetics*; D030541:Databases, Genetic; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016324:Sequence Tagged Sites; D012733:Sex Differentiation / Q000235:genetics; D013268:Stimulation, Chemical; D013739:Testosterone / Q000097:blood
chemical_list: D000305:Adrenal Cortex Hormones; D006063:Chorionic Gonadotropin; D013739:Testosterone