title: A diploid-triploid (60,XX/90,XXY) intersex in a Holstein heifer.
abstract: The diploid/triploid (60,XX/90,XXY) condition in Bos taurus is very rare and only three cases have been published previously. The present animal exhibited an aplastic vulva, penis and clitoris agenesis, a male-like urethra located in a pseudoprepuce opening between the mammary complexes and a well developed M. rectipeninus. A normal (60,XX) female karyotype was detected in lymphocyte cultures whereas uterus and tendon cells revealed a 60,XX/90,XXY mixoploidy. Quantification of X and Y chromosome-specific sequences using RT-PCR revealed extraordinary high Y chromosome equivalents in the sample recovered from the male-like transformed vestibulum vaginae suggesting a causative relationship. The pathogenesis of the missing clitoris and penis, which is contrasted by the concomitant presence of a well developed M. rectipeninus, remains difficult to explain. A chimeric origin is suggested despite the fact that microsatellite analysis of the animal's blood cells displayed no un- usual allele accumulation.
authors.affiliation: Institute for Reproductive Biology, School of Veterinary Medicine Hannover, Foundation, Hannover, Germany. burkhard.meinecke@tiho-hannover.de
authors.forename: B
authors.initials: B
authors.lastname: Meinecke
authors.forename: C
authors.initials: C
authors.lastname: Drogemuller
authors.forename: H
authors.initials: H
authors.lastname: Kuiper
authors.forename: D
authors.initials: D
authors.lastname: Burstel
authors.forename: P
authors.initials: P
authors.lastname: Wohlsein
authors.forename: S
authors.initials: S
authors.lastname: Ebeling
authors.forename: A
authors.initials: A
authors.lastname: Wehrend
authors.forename: S
authors.initials: S
authors.lastname: Meinecke-Tillmann
mesh_terms: D000818:Animals; D002417:Cattle / Q000235:genetics*; D033481:Chromosomes, Mammalian / Q000235:genetics*; D004171:Diploidy; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D005836:Genitalia, Female / Q000473:pathology; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D008677:Metaphase; D011123:Polyploidy; D012730:Sex Chromosomes / Q000235:genetics*