Di Meo G P, Perucatti A, Di Palo R, Iannuzzi A, Ciotola F, Peretti V, Neglia G, Campanile G, Zicarelli L, Iannuzzi L
National Research Council (CNR), ISPAAM, Laboratory of Animal Cytogenetics and Gene Mapping, Naples, Italy.
Cytogenet Genome Res. 2008;120(1-2):127-31. doi: 10.1159/000118751. Epub 2008 Apr 30.
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.
13头雄性河水牛、119头有生殖问题的雌性水牛(已达生殖年龄,但在有公牛存在的情况下未能怀孕)以及2头雄性联体双胎接受了临床和细胞遗传学检查。兽医进行的临床分析显示,大多数雌性水牛身体形态和外生殖器正常。然而,一些个体表现出一些轻微的雄性特征,如粗大的角基部周长、突出的肩胛和狭窄的骨盆。直肠触诊发现内部性器官存在损伤,从苗勒氏管萎缩到完全没有内部性器官(阴道闭锁)不等。所有公牛在高分辨率显带时核型正常,而25头有生殖问题的动物(23头雌性和2头雄性联体双胎)(20.7%)被发现携带以下性染色体异常:X单体(2头雌性);X三体(1头雌性);性反转综合征(2头雌性);以及自由马丁现象(18头雌性和2头雄性)。所有携带异常的雌性均不育。