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31 December 2013 UNUSUAL TURNER SYNDROME MOSAIC WITH A TRIPLE X CELL LINE (47,X/49,XXX) IN A WESTERN LOWLAND GORILLA (GORILLA GORILLA GORILLA)
Carol M. Bradford, Lynn Tupa, Debbie Wiese, Timothy J. Hurley, Ralph Zimmerman
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Abstract

A 29-yr-old female western lowland gorilla (Gorilla gorilla gorilla) was evaluated for low fertility and a midterm abortion. Laboratory testing included karyotyping, which revealed an unusual mosaicism for Turner syndrome with Triple X (47,X/49,XXX). This appears to be the first report of Turner syndrome in a great ape. In humans, Turner syndrome occurs in approximately 1 in 3,000 females, with half of those monosomic for the X chromosome. A small proportion is mosaic for a triple X cell line (3–4%). In humans, Turner syndrome is associated with characteristic phenotype including short stature, obesity, a broad chest with widely spaced nipples, webbing of the neck, and anteverted ears. This individual gorilla is significantly shorter in stature than conspecifics and is obese despite normal caloric intake. Individuals with Turner syndrome should also be screened for common health issues, including congenital heart defects, obesity, kidney abnormalities, hypertension, hypothyroidism, and diabetes mellitus. Animals with decreased fertility, multiple miscarriages, fetal losses, unusual phenotypes, or a combination of these symptoms should be evaluated for genetic abnormalities.

American Association of Zoo Veterinarians
Carol M. Bradford, Lynn Tupa, Debbie Wiese, Timothy J. Hurley, and Ralph Zimmerman "UNUSUAL TURNER SYNDROME MOSAIC WITH A TRIPLE X CELL LINE (47,X/49,XXX) IN A WESTERN LOWLAND GORILLA (GORILLA GORILLA GORILLA)," Journal of Zoo and Wildlife Medicine 44(4), 1055-1058, (31 December 2013). https://doi.org/10.1638/2011-0206R1.1
Received: 21 September 2011; Published: 31 December 2013
KEYWORDS
Genetic abnormality
gorilla
Gorilla gorilla gorilla
great ape
mosaic
Turner syndrome
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