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)
| Autor: | Leopoldo Iannuzzi, Giovanna Varricchio, V. Genualdo, Alessandra Iannuzzi, Alfredo Pauciullo, Angela Perucatti, Domenico Incarnato, Donato Matassino |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Monosomy
Derivative chromosome Agerolese cattle breed clinical cytogenetic investigation Translocation Trisomy Chromosomal translocation Biology Fluorescence Translocation Genetic Genetic Centromere Genetics medicine Animals Chromosomal aberrations Fatal disease FISH analysis Animals Newborn Cattle In Situ Hybridization Fluorescence Molecular Biology Genetics (clinical) Gene In Situ Hybridization Breakpoint Chromosome Newborn medicine.disease |
| Zdroj: | Cytogenetic and genome research (Online) (2015). doi:10.1159/000438973 info:cnr-pdr/source/autori:Iannuzzi A, Genualdo V, Perucatti A, Pauciullo A, Varricchio G, Incarnato D, Matassino D, Iannuzzi L./titolo: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)./doi:10.1159%2F000438973/rivista:Cytogenetic and genome research (Online)/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume |
| ISSN: | 1424-859X 1424-8581 |
| DOI: | 10.1159/000438973 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|