Document Detail

Numerical sex chromosome aberrations and abnormal sex development in horse and sheep.
MedLine Citation:
PMID:  20110649     Owner:  NLM     Status:  MEDLINE    
Gonadal dysgenesis and heterosexual conditions are often associated with sex chromosome abnormalities. In this study we report on 2 cases of abnormal sex development involving numerical sex chromosome aberrations in both horse and sheep. A 17-month-old Standardbred filly was sent to an equine fertility centre as an embryo donor due to its reduced size, being much smaller than a racehorse filly of the same age, which excluded it from an athletic career. External genitalia were clinically normal but manual palpation of the reproductive tract showed the presence of a small underdeveloped uterus and ovaries, as confirmed by ultrasonographic examination. Cytogenetic investigation by CBA-banding revealed an abnormal karyotype with X chromosome monosomy (2n = 63,X). A 18-month-old ewe showed distinct heterosexual traits with presence of a vulva (with enlarged clitoris), well-developed abdominal testes and mammary glands. Internal sex adducts were atrophic as seen after mating. Cytogenetic analysis revealed the presence of XX/XY mosaicism.
G P Di Meo; G Neglia; A Perucatti; V Genualdo; A Iannuzzi; D Crocco; D Incarnato; G Romano; P Parma; L Iannuzzi
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2010-01-27
Journal Detail:
Title:  Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation     Volume:  3     ISSN:  1661-5433     ISO Abbreviation:  Sex Dev     Publication Date:  2009  
Date Detail:
Created Date:  2010-03-03     Completed Date:  2010-08-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101316472     Medline TA:  Sex Dev     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  329-32     Citation Subset:  IM    
National Research Council, ISPAAM, Laboratory of Animal Cytogenetics and Gene Mapping, Naples, Italy.
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MeSH Terms
Chromosome Banding
Horses / abnormalities*,  genetics*
Sex Chromosome Aberrations*
Sex Differentiation Disorders / genetics,  veterinary*
Sexual Behavior, Animal
Sheep / abnormalities*,  genetics*

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