Articolo in rivista, 2015, ENG, 10.1159/000438973

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).

Iannuzzi A, Genualdo V, Perucatti A, Pauciullo A, Varricchio G, Incarnato D, Matassino D, Iannuzzi L.

Laboratory of Animal Cytogenetics and Gene Mapping, ISPAAM, National Research Council CNR, Naples, Italy.

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.

Cytogenetic and genome research (Online)

Keywords

Agerolese cattle breed; clinical cytogenetic investigation;

CNR authors

Iannuzzi Leopoldo, Incarnato Domenico, Iannuzzi Alessandra, Pauciullo Alfredo, Genualdo Viviana, Perucatti Angela

CNR institutes

ISPAAM – Istituto per il sistema produzione animale in ambiente Mediterraneo

ID: 333605

Year: 2015

Type: Articolo in rivista

Creation: 2015-09-08 10:41:50.000

Last update: 2016-03-07 15:57:45.000

External IDs

CNR OAI-PMH: oai:it.cnr:prodotti:333605

DOI: 10.1159/000438973

PubMed: 26337016