Novel cytogenetic finding: an unusual X;X-translocation in Mehsana buffalo &lt;i&gt;(Bubalus bubalis)&lt;/i&gt;

Patel, Rajesh K; Singh, Krishna M.; Soni, Kalpesh J.; Chauhan, Jenabhai B.

doi:10.1159/000095241

Cited by 11 publications

(8 citation statements)

References 18 publications

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“…This is due to the presence of the sexdetermining gene SRY on the Y chromosome. XXY-syndrome is very rare in cattle [Rieck, 1970;Herzog et al, 1977;Ducos et al, 2008] and river buffalo [Patel et al, 2006] and carriers are characterized by testicular hypoplasia. An XXY/XY mosaicism has been found and re-lated to testicular hypoplasia [Dain and Bridge, 1978].…”

Section: Xxy-syndromementioning

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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Section: Xxy-syndromementioning

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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“…While centric fusion translocations are very common in cattle, especially in meat breeds [Popescu and Pech, 1991;Ducos et al, 2008], they have never been found in river buffalo, with the exception of an X/X centric fusion in a case of XXY-syndrome [Patel et al, 2006]. However, this may due to the small number of cytogenetic investigations performed in this species to date.…”

Section: Resultsmentioning

confidence: 93%

A Rare Case of Centric Fission and Fusion in a River Buffalo (Bubalus bubalis, 2n = 50) Cow with Reduced Fertility

Meo

Perucatti

Genualdo

et al. 2010

Cytogenet Genome Res

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A 5-year-old river buffalo cow underwent cytogenetic investigation since it had only one male offspring, apparently with normal body constitution, which died one month after birth. The female carrier had normal body conformation and internal sex adducts, as revealed by rectal palpation performed by a specialist veterinary practitioner. The cow was found to carry a complex and rare chromosome abnormality. Indeed, a centric fission of one river buffalo (BBU) chromosome 1 with a subsequent (or simultaneous) centric fusion of BBU1p with BBU23 was revealed by both RBA-banding and specific molecular markers of BBU1p (DEFB1) and BBU23 (ACTA2). CBA-banding revealed a pale, very small C-band in the der1 (BBU1q) and a prominent C-band on the new biarmed chromosome originated by rob(1p;23). Both telomeric probes and AgNOR staining confirmed the Robertsonian translocation (rob), both FITC-signals and the NORs (BBU23) being telomerically located. Furthermore, telomeric signals on der1 (BBU1q) indicate that these 2 chromosomal events may be the result of a reciprocal translocation which occurred between BBU1 and BBU23.

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“…In domestic animals, XXY-trisomy leads to a syndrome known as Klinefelter syndrome in humans. It is very rare in cattle [Rieck et al, 1970;Herzog et al, 1977;Ducos et al, 2008] and river buffalo [Patel et al, 2006]. Carriers are characterized by bi-lateral testicular hypoplasia [Dunn et al, 1979].…”

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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Novel cytogenetic finding: an unusual X;X-translocation in Mehsana buffalo <i>(Bubalus bubalis)</i>

Cited by 11 publications

References 18 publications

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

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

A Rare Case of Centric Fission and Fusion in a River Buffalo (Bubalus bubalis, 2n = 50) Cow with Reduced Fertility

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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