title: Disorder of sex development in a cat with chromosome mosaicism 37,X/38,X,r(Y).
abstract: 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).
authors.affiliation: Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
authors.forename: I
authors.initials: I
authors.lastname: Szczerbal
authors.affiliation: Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Stachowiak
authors.affiliation: Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Nowacka-Woszuk
authors.affiliation: Department of Pathology, Wroclaw University of Environmental and Life Sciences, Wroclaw, Poland.
authors.forename: S
authors.initials: S
authors.lastname: Dzimira
authors.affiliation: Veterinary Practice "Bahati", Skorzewo, Poland.
authors.forename: K
authors.initials: K
authors.lastname: Szczepanska
authors.affiliation: Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
authors.forename: M
authors.identifier: http://orcid.org/0000-0003-2539-9508
authors.initials: M
authors.lastname: Switonski
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000235:genetics*; D002415:Cats; D012734:Disorders of Sex Development / Q000235:genetics* / Q000662:veterinary*; D005835:Genitalia / Q000002:abnormalities; D008297:Male; D009030:Mosaicism; D012303:Ring Chromosomes; D012729:Sex Chromosome Aberrations / Q000662:veterinary*; D014998:Y Chromosome