Fatal Outcome in a Newborn Calf Associated with Partial Trisomy 25q and Partial Monosomy 11q, 60,XX,der(11)t(11;25)(q11;q14∼21)

Abstract

A newborn calf of the Agerolese cattle breed underwent clinical cytogenetic investigation because of hyperflexion of the forelimbs, red eyes and the inability to stand. Anamnesis revealed that the mother, phenotypically normal, carried a chromosomal aberration. The newborn died after 2 weeks, and no remarkable alterations were found by the veterinarian on postmortem examination. The mother was a carrier of a reciprocal balanced translocation rcp(11;25)(q11,q14∼21) detected after a cytogenetic investigation in 2011; however, the analysis of the newborn revealed a different chromosomal aberration with partial trisomy of chromosome 25 and partial monosomy of chromosome 11. In fact, the results showed both chromosomes 25, one chromosome 11 and only one long derivative chromosome (der11). FISH analysis, performed using BAC clones, confirmed the chromosomes and their regions involved. Finally, both the localization of the breakpoints on band q11 (centromere) of chromosome 11 and band q14-21 of chromosome 25, and the complete loss of the der25 identified the aberration as an unbalanced translocation 60,XX,der(11)t(11;25)(q11;q14∼21). A comparison with human chromosomes was also performed to search for similarities and possible genes involved in order to study their effects, thus extending the knowledge of these aberrations by case reports.

Chromosome Abnormalities and Fertility in Domestic Bovids: A Review

“…A particular case has been reported in a calf of the Agerolese breed (southern Italy). This animal, unable to stand up and which died a few weeks after birth, was found to be affected by partial trisomy 25 and partial monosomy 11 [39] (Table 2) due to an unbalanced meiosis of the mother cow, which had been affected by a balanced rcp (11;25) and reduced fertility [41]. Two cases of trisomy involving BTA20 and BTA29 have been found using only genomic analyses [30,40].…”

Clinical, cytogenetic and molecular genetic characterization of a tandem fusion translocation in a male Holstein cattle with congenital hypospadias and a ventricular septal defect

“…After the analysis, the coverslip was removed, and the slide was washed in PBST (PBS 1X and Tween 20) solution, rinsed, and dried before C-banding (CBA). CBA followed the protocols reported in [77], and the same cells as above were analyzed.…”

Chromosome Abnormalities in Domestic Animals as Causes of Disorders of Sex Development or Impaired Fertility

“…The incidence of reciprocal translocations in cattle, the most extensively cytogenetically studied species, is much lower. In the literature, there are reports on 21 different cases of reciprocal translocations, including two cases of the X-autosome and another two cases of Yautosome translocations [63]. A low incidence of the translocation carriers seems to be a result of the limited resolution of the commonly used Giemsa staining This approach is sufficient to detect aneuploidies and centric fusions but does not facilitate the detection of a majority of reciprocal translocations.…”