Diagnosis of XX/XY Blood Cell Chimerism at a Low Percentage in Horses

Albarella, Sara; Lorenzi, L. De; Colella, Giuseppe; Magi, Gian Enrico; Petrucci, Linda; Vullo, Cecilia; D’Anza, Emanuele; Parma, P.; Raudsepp, Terje; Ciotola, Francesca; Peretti, V.

doi:10.1016/j.jevs.2018.06.016

Cited by 10 publications

(11 citation statements)

References 23 publications

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“…The consequence is the exchange of hematopoietic cells and the interaction of the endocrine and immune systems between the twins. The consequence of the formation of anastomoses are changes in the female reproductive system, which most often lead to infertility (cattle, sheep) or reproductive problems (horses) [ 53 , 125 , 126 , 127 , 128 , 129 , 130 , 131 ].…”

Section: Chromosome Aberrationsmentioning

confidence: 99%

Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings

Bugno‐Poniewierska

Raudsepp

2021

Animals

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Clinical cytogenetic studies in horses have been ongoing for over half a century and clearly demonstrate that chromosomal disorders are among the most common non-infectious causes of decreased fertility, infertility, and congenital defects. Large-scale cytogenetic surveys show that almost 30% of horses with reproductive or developmental problems have chromosome aberrations, whereas abnormal karyotypes are found in only 2–5% of the general population. Among the many chromosome abnormalities reported in the horse, most are unique or rare. However, all surveys agree that there are two recurrent conditions: X-monosomy and SRY-negative XY male-to-female sex reversal, making up approximately 35% and 11% of all chromosome abnormalities, respectively. The two are signature conditions for the horse and rare or absent in other domestic species. The progress in equine genomics and the development of molecular tools, have qualitatively improved clinical cytogenetics today, allowing for refined characterization of aberrations and understanding the underlying molecular mechanisms. While cutting-edge genomics tools promise further improvements in chromosome analysis, they will not entirely replace traditional cytogenetics, which still is the most straightforward, cost-effective, and fastest approach for the initial evaluation of potential breeding animals and horses with reproductive or developmental disorders.

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Section: Chromosome Aberrationsmentioning

confidence: 99%

Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings

Bugno‐Poniewierska

Raudsepp

2021

Animals

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“…Finally, chimerism, which is a chromosome aberration widely described in horses (Albarella et al, 2018;, could be also detected using our methodology. All the blood and hair DNA samples analysed from both donkey populations showed normal and identical results, demonstrating the absence of chimerism.…”

Section: Re Sults and Discussionmentioning

confidence: 85%

A new molecular screening tool for the detection of chromosomal abnormalities in donkeys

Poyato‐Bonilla

Anaya‐Calvo

Molina

et al. 2019

Reprod Domestic Animals

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Contents Chromosomal abnormalities are a major cause of infertility and reproductive problems in equids. Nowadays, their detection is rising due to the use of new diagnostic tools based on molecular markers instead of karyotyping. Reports of this kind of genetic aberrations in domestic donkeys (Equus asinus) are extremely scarce, despite their importance in human activities. In the present study, we analysed the implementation of a short‐tandem‐repeat (STR)‐based molecular method initially developed for horses, as a diagnostic tool to detect chromosomal abnormalities in donkeys. The frequency of five X‐linked (LEX003, LEX026, TKY38, TKY270 and UCEDQ502) and one Y‐linked (ECAYM2) molecular markers and one Y‐linked gene (sex‐determining region Y, SRY) was characterized in 121 donkeys from two diverse breeds, the Spanish Andalusian and the African Moroccan breeds. The molecular panel showed 100% sensitivity and 99.67% specificity in detecting 10 different chromosomal abnormalities in the species. In conclusion, this methodology is a valid, rapid and low‐cost tool for the detection and characterization of chromosomal abnormalities in domestic donkeys.

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“…Cytogenetic analyses, like conventional and banded karyotype, should be the first to be performed in cases of congenital malformation of unknown genetic causes [ 12 ]. They are commonly used for the evaluation of different kind of congenital malformation like disorders of the genital apparatus [ 13 , 14 , 15 ] and musculoskeletal defects [ 16 , 17 , 18 , 19 ]. In pigs, balanced reciprocal translocations are relatively common and occurs at an approximate rate of one in 200 boars [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

Perosomus Elumbis in Piglets: Pathological, Radiological and Cytogenetic Findings

Piegari

D’Anza

Costanza

et al. 2021

Animals

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Perosomus elumbis (PE) is a rare congenital condition characterized by agenesis of the lumbar, sacral and coccygeal vertebrae. Perosomus elumbis has rarely been reported in literature as morphological description of singles or few cases. Here we report the first extensive description of eight cases of PE detected in two consecutive litters from the same parents of Casertana pig breed. In August 2018, eight piglets were investigated for multiple malformations. All malformed animals, but one, died in the first day of life. The survivor piglet died at 23 days of age. Pathological, radiological and cytogenetic examination was performed. Furthermore, a farm epidemiological investigation was carried out to investigate the percentage of piglets born dead or with malformations in 2018. The radiological and pathological exams showed skeletal abnormalities at the spinal cord level and visceral malformations. Cytogenetic investigations showed a normal chromosome arrangement. Finally, epidemiological investigation revealed a low prevalence of malformations in newborn pigs, equal to 0.5% of the total birth rate of the farm. Our findings report the first extensive description of PE cases in pigs and suggest an underestimation of this malformation in veterinary medicine. Our findings also suggest a specific genetic etiological basis as cause of PE in pigs and exclude chromosomal abnormalities. Further studies will be performed to confirm this hypothesis.

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Diagnosis of XX/XY Blood Cell Chimerism at a Low Percentage in Horses

Cited by 10 publications

References 23 publications

Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings

Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings

A new molecular screening tool for the detection of chromosomal abnormalities in donkeys

Perosomus Elumbis in Piglets: Pathological, Radiological and Cytogenetic Findings

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