Monosomy X and gonadal dysgenesis in a buffalo heifer (Bubalusbubalis)

Yadav, B. R.; Kumar, Parveen; Tomer, O. S.; Kumar, Satyendra; Balain, D. S.

doi:10.1016/0093-691x(90)90580-m

Cited by 16 publications

(8 citation statements)

References 17 publications

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“…This syndrome is rare in domestic animals, although several cases have been reported in horses. Generally, animal carriers are sterile due to serious damage to internal sex adducts as reported in four female river buffaloes found so far in India (two cases) (Yadav et al, 1990;Prakash et al, 1992) and in Italy (two cases) (Iannuzzi et al, 2000;present study). In humans, about 90% of 2n = 45,X conceptuses (Turner's syndrome) die prenatally within the first three months, while short stature, normal intelligence and primary amenorrhoea are the most important features in adult women (Jonasson, 1986) where the incidence of this syndrome is 1 in every 2,500 live female births (Ross et al, 2006).…”

Section: Resultsmentioning

confidence: 86%

Sex chromosome abnormalities and sterility in river buffalo

Meo

Perucatti

Palo

et al. 2008

Cytogenet Genome Res

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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.

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Section: Resultsmentioning

confidence: 86%

Sex chromosome abnormalities and sterility in river buffalo

Meo

Perucatti

Palo

et al. 2008

Cytogenet Genome Res

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“…The presence of only one X chromosome in females of both cattle and river buffalo has been found in a few cases [Yadav et al, 1990;Prakash et al, 1992Prakash et al, , 1995Iannuzzi et al, 2000;Di Meo et al, 2008]. All female carriers showed gonadal dysgenesis and were sterile.…”

Section: X-monosomymentioning

confidence: 99%

Classical and Molecular Cytogenetics of Disorders of Sex Development in Domestic Animals

Villagómez

Parma

Radi

et al. 2009

Cytogenet Genome Res

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The association of abnormal chromosome constitutions and disorders of sex development in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets (e.g. aneuploidy) and/or the coexistence of cells with different sex chromosome constitutions (e.g. mosaicism or chimerism) in an individual seem to be the main causes of anomalies of sex determination and sex differentiation. Molecular cytogenetics and genetics have increased our understanding of these pathologies, where human and mouse models have provided a substantial amount of knowledge, leading to the discovery of a number of genes implicated in mammalian sex determination and differentiation. Additionally, other genes, which appeared to be involved in ovary differentiation, have been found by investigations in domestic species such as the goat. In this paper, we present an overview of the biology of mammalian sex development as a scientific background for better understanding the body of knowledge of the clinical cytogenetics of disorders of sex development in domestic animals. An attempt to summarize of what has been described in that particular subject of veterinary medicine for each of the main mammalian domestic species is presented here.

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“…X-chromosome monosomy ( fig. 1 ) has been reported, although quite rarely, in river buffalo [Yadav et al, 1990;Prakash et al, 1992Prakash et al, , 1995Iannuzzi et al, 2000;Di Meo et al, 2008], cattle [Prakash et al, 1995] and sheep [Zartman et al, 1981]. Gonadal dysgenesis characterizes the carriers, which are often sterile, with remarkable alterations of the reproductive tract.…”

Section: Abnormal Sexual Development In Cattle and River Buffaloes: Cmentioning

confidence: 99%

Disorders of Sexual Development and Abnormal Early Development in Domestic Food-Producing Mammals: The Role of Chromosome Abnormalities, Environment and Stress Factors

Favetta

Villagómez

Iannuzzi

et al. 2011

Sex Dev

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The management of disorders of sexual development (DSD) in humans and domestic animals has been the subject of intense interest for decades. The association between abnormal chromosome constitutions and DSDs in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets and/or the coexistence of cells with different sex chromosome constitutions in an individual seem to be the main causes of anomalies of sex determination and sex differentiation. In recent years, a growing interest has developed around the environmental insults, such as endocrine-disrupting compounds (EDC) and heat stressors, which affect fertility, early embryonic development and, in some instances, directly the sex ratio and/or the development of 1 specific sex versus the other. A variety of chemical compounds present in the environment at low doses has been shown to have major effects on the reproductive functions in human and domestic animals following prolonged exposure. In this review, we present an overview of congenital/chromosomal factors that are responsible for the DSDs and link them and the lack of proper embryonic development to environmental factors that are becoming a major global concern.

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Monosomy X and gonadal dysgenesis in a buffalo heifer (Bubalusbubalis)

Cited by 16 publications

References 17 publications

Sex chromosome abnormalities and sterility in river buffalo

Sex chromosome abnormalities and sterility in river buffalo

Classical and Molecular Cytogenetics of Disorders of Sex Development in Domestic Animals

Disorders of Sexual Development and Abnormal Early Development in Domestic Food-Producing Mammals: The Role of Chromosome Abnormalities, Environment and Stress Factors

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