Iannuzzi Alessandra, Genualdo Viviana, Perucatti Angela, Pauciullo Alfredo, Varricchio Giovanna, Incarnato Domenico, Matassino Donato, Iannuzzi Leopoldo
Laboratory of Animal Cytogenetics and Gene Mapping, ISPAAM, National Research Council CNR, Naples, Italy.
Cytogenet Genome Res. 2015;146(3):222-9. doi: 10.1159/000438973. Epub 2015 Aug 26.
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.
一头阿杰罗莱塞牛品种的新生犊牛因前肢过度弯曲、眼睛发红和无法站立而接受了临床细胞遗传学检查。病史显示,表型正常的母亲携带一种染色体畸变。新生犊牛在2周后死亡,兽医在尸检时未发现明显异常。母亲是2011年细胞遗传学检查后检测出的相互平衡易位rcp(11;25)(q11,q14∼21)的携带者;然而,对新生犊牛的分析显示出不同的染色体畸变,即25号染色体部分三体和11号染色体部分单体。事实上,结果显示有两条25号染色体、一条11号染色体和仅一条长衍生染色体(der11)。使用BAC克隆进行的荧光原位杂交(FISH)分析证实了所涉及的染色体及其区域。最后,11号染色体q11带(着丝粒)和25号染色体q14 - 21带的断点定位,以及der25的完全缺失,将该畸变确定为不平衡易位60,XX,der(11)t(11;25)(q11;q14∼21)。还与人类染色体进行了比较,以寻找相似之处和可能涉及的基因,从而研究它们的影响,通过病例报告扩展对这些畸变的认识。