title: Sex chromosome abnormalities and sterility in river buffalo.
abstract: Thirteen male river buffaloes, 119 females with reproductive problems (which had reached reproductive age but had failed to become pregnant in the presence of bulls) and two male co-twins underwent both clinical and cytogenetic investigation. Clinical analyses performed by veterinary practitioners revealed normal body conformation and external genitalia for most females. However, some subjects showed some slight male traits such as large base horn circumference, prominent withers and tight pelvis. Rectal palpation revealed damage to internal sex adducts varying between atrophy of Mullerian ducts to complete lack of internal sex adducts (with closed vagina). All bulls had normal karyotypes at high resolution banding, while 25 animals (23 females and 2 male co-twins) (20.7%) with reproductive problems were found to carry the following sex chromosome abnormalities: X monosomy (2 females); X trisomy (1 female); sex reversal syndrome (2 females); and free-martinism (18 females and 2 males). All female carriers were sterile.
authors.affiliation: National Research Council (CNR), ISPAAM, Laboratory of Animal Cytogenetics and Gene Mapping, Naples, Italy. giulia.dimeo@ispaam.cnr.it
authors.forename: G P
authors.initials: GP
authors.lastname: Di Meo
authors.forename: A
authors.initials: A
authors.lastname: Perucatti
authors.forename: R
authors.initials: R
authors.lastname: Di Palo
authors.forename: A
authors.initials: A
authors.lastname: Iannuzzi
authors.forename: F
authors.initials: F
authors.lastname: Ciotola
authors.forename: V
authors.initials: V
authors.lastname: Peretti
authors.forename: G
authors.initials: G
authors.lastname: Neglia
authors.forename: G
authors.initials: G
authors.lastname: Campanile
authors.forename: L
authors.initials: L
authors.lastname: Zicarelli
authors.forename: L
authors.initials: L
authors.lastname: Iannuzzi
mesh_terms: D000818:Animals; D002020:Buffaloes / Q000002:abnormalities / Q000235:genetics*; D002871:Chromosome Banding / Q000662:veterinary; D012734:Disorders of Sex Development / Q000235:genetics / Q000473:pathology / Q000662:veterinary; D005260:Female; D007246:Infertility / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D007621:Karyotyping / Q000662:veterinary; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D025064:Sex Chromosome Disorders / Q000235:genetics / Q000473:pathology / Q000662:veterinary*