Disorder of sex development in a cat with chromosome mosaicism 37,X/38,X,r(Y).

An 18-month-old European shorthair cat was subjected to genetic studies due to ambiguous external genitalia (underdeveloped both penis and scrotum). Further anatomic and histopathological studies revealed the presence of abdominal, atrophic testes and uterus. Cytogenetic analysis showed two cell lines, one with X monosomy-37,X [90% of the analysed metaphase spreads], and other line had 38 chromosomes with normal X chromosome and abnormally small Y-derived chromosome-38,X,der(Y) [10%]. Further fluorescence in situ hybridization study with telomeric probe revealed a ring structure of the der(Y). Eight Y chromosome-specific genes, SRY, TETY1, TETY2, CUL4BY, CYORF15, HSFY, FLJ36031Y and ZFY, were detected. We conclude that the described abnormality of the reproductive system, leading to sterility, was caused by a very rare type of chromosomal mosaicism-37,X/38,X,r(Y).

[1]  F. Veyrunes,et al.  Sex Reversal in Non-Human Placental Mammals , 2016, Sexual Development.

[2]  J. Arora,et al.  Y-chromosomal genes affecting male fertility: A review , 2016, Veterinary world.

[3]  B. Chowdhary,et al.  Chromosome Aberrations and Fertility Disorders in Domestic Animals. , 2016, Annual review of animal biosciences.

[4]  F. Janett,et al.  37,X/38,XY Mosaicism in a Cryptorchid Bengal Cat with Müllerian Duct Remnants , 2016, Sexual Development.

[5]  M. Świtoński,et al.  The first case of 38,XX (SRY-positive) disorder of sex development in a cat , 2015, Molecular Cytogenetics.

[6]  M. Świtoński,et al.  X monosomy in a virilized female cat. , 2015, Reproduction in domestic animals = Zuchthygiene.

[7]  K. Almstrup,et al.  A Tortoiseshell Male Cat: Chromosome Analysis and Histologic Examination of the Testis , 2013, Cytogenetic and Genome Research.

[8]  S. Bhatt,et al.  Human ring chromosomes and small supernumerary marker chromosomes—do they have telomeres? , 2012, Chromosome Research.

[9]  V. Meyers-Wallen.  Gonadal and Sex Differentiation Abnormalities of Dogs and Cats , 2011, Sexual Development.

[10]  B. Bianco,et al.  Y chromosome in Turner syndrome: review of the literature. , 2009, Sao Paulo medical journal = Revista paulista de medicina.

[11]  P. Simi,et al.  Mosaic ring Y chromosome in two normal healthy men with azoospermia. , 2005, Fertility and sterility.