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At least 109 records · Page 6Linked to original sources
PubMed2003

Cytogenetics of the genus Arvicanthis (Rodentia, Muridae). 3. Comparative cytogenetics of A. neumanni and A. nairobae from Tanzania.

The African rats of the genus Arvicanthis have been widely studied during recent years to clarify species boundaries and phylogenetic relationships. The wide chromosomal variability of the genus has been highlighted in several studies, with each accepted species characterised by its individual karyotypes and others being revealed as cryptic species. In the present paper we report the karyotype and the C- and G-banding patterns of the two species A. nairobae and A. neumanni from seven localities of Tanzania, an area of the range poorly studied. The two karyotypes were compared to that of A. niloticus, which is considered to be primitive. The karyotype of A. neumanni is characterised by 2n = 53-54 and NFa = 62. This karyotypic variability depends on a widespread Robertsonian polymorphism. The karyotype of A. nairobae shows 2n = 62 and NFa = 78; it diverges from that of A. niloticus through one reciprocal translocation, five inversions and three heterochromatic additions. The comparison with the karyotypes of other species of the genus showed that A. neumanni belongs to the east African lineage (with A. abyssinicus, A. blicki, A. niloticus), while A. nairobae is closer to the central and the west African representatives which were all previously under the name of A. niloticus (ANI-2, ANI-3, ANI-4). The distribution of A. nairobae in east Africa opens new scenarios in the biogeographical pattern of evolution of the genus.

Animals↗
PubMed2006

Cytogenetics and molecular cytogenetics in multiple myeloma.

Multiple myeloma (MM) is characterized by frequent and complex genomic abnormalities that not only essentially contribute to the pathogenesis of this disease but also reflect its prognostic heterogeneity. There is evidence for two more or less mutually exclusive oncogenic pathways in the early development of clonal plasma cell disorders. Approximately half the tumours are non-hyperdiploid and carry translocations of the immunoglobulin heavy-chain (IgH) locus and various oncogenes, for example Cyclin D1, Cyclin D3, and FGFR3. The remaining hyperdiploid tumours exhibit recurrent trisomies - typically of chromosomes 5, 7, 9, 11, 15, 19, and 21 - but infrequently exhibit IgH translocations. While some chromosomal aberrations, such as deletion of chromosome arm 13q, deliver independent prognostic information that is already utilized for risk stratification within clinical trials, the prognostic significance of most other genetic aberrations in MM is undetermined.

Chromosome Aberrations↗
PubMed1998

Correlation of cytogenetic, molecular cytogenetic, and clinical findings in 59 patients with ANLL or MDS and abnormalities of the short arm of chromosome 12.

Abnormalities of the short arm of chromosome 12 (12p) are found in about 5% of acute nonlymphocytic leukaemias (ANLL) and myelodysplastic syndromes (MDS). They are described to be characteristic of secondary leukaemias, especially after prior mutagenic exposure, and to be associated with a poor prognosis. In our series of 59 patients with 12p abnormalities and ANLL or MDS, exposure to genotoxic agents was proven only in five patients, but in 13/44 patients ANLL evolved from an MDS. Patients with a small deletion del(12)(p11.2p13) having a mild clinical course were distinguished from those with a large del(12)(p11.2), additional chromosomal anomalies, and a poor clinical course. Among the 31 patients with translocations or dicentric chromosomes involving 12p, a group of eight with t/dic(12;13) was the most frequent and was associated with a poor prognosis. The clinical outcome was adverse in the majority of patients with complex karyotype abnormalities, but in some patients a milder clinical course seems likely. A new, hitherto undescribed, abnormality in an MDS case with a duplication dup(12)(p11.2p13) was the amplification of the signal of the yeast artificial chromosome (YAC) clone 964c10 (D12S736). In 38 cases with deletions or unbalanced translocations/dicentrics one YAC signal was lost. Five patients with balanced translocations demonstrated breakpoints within the YAC, containing the ETV6 (TEL) gene. The breakpoints were telomeric to the YAC 964c10 in seven cases and centromeric in one patient.

Adult↗
PubMed1995

Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q.

A 4-month-old child with multiple anomalies was determined to have an interstitial deletion of chromosome 15, i.e., del(15) (q12q14). The deletion appears not to be a typical deletion of 15q12 such as seen in Angelman and Prader-Willi syndromes, but appears to be more distal, involving either loss of all of 15q12 and part of 15q14, or part of 15q12 and most of 15q14. In either case, 15q13 is missing. Fluorescent in situ hybridization with probes for 15 centromere (D15Z), pericentromeric satellite sequences (D15Z1), and chromosome 15 painting probes shows the deleted chromosome to involve only 15 and no other acrocentric chromosome. Hybridization with probes for the AS and PWS loci (D15S11 and GABAB3, Oncor) show both sites to be intact in the deleted 15. The case is compared with two other reports with overlapping interstitial deletions of proximal 15q, neither of which shows typical features of Angelman or Prader-Willi syndromes.

Abnormalities, Multiple↗
PubMed1999

Trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization.

We present a 7-year-old boy with growth retardation, developmental and mental delay, and minor physical abnormalities. The patient had a male karyotype with duplicated material of unknown origin in the long arm of chromosome 17. The origin of the duplicated material was clarified by fluorescence in situ hybridization. Forward chromosome painting showed that the extra material originated from chromosome 2, which was inserted into 17q25. Further characterization of the aberrant chromosome 17 by microdissection and reverse chromosome painting revealed a duplication of bands 2q35 to q37.1. To our knowledge, no other individual with a duplication of this small segment has been described so far. The clinical findings of 13 cases with isolated trisomy 2q are reviewed in relation to the size of the duplicated region. Functional analysis of the duplicated 2q region suggests that critical loci for visceral and central nervous system development in distal trisomy 2q are proximal to 2q33.

Adult↗