Search results for "Karyotype"
showing 10 items of 150 documents
Involvement of the chromosomal region 11q13 in renal oncocytoma: case report and literature review.
1997
Renal oncocytomas comprise a cytogenetically heterogeneous group of tumors consisting potentially of cytogenetic distinguishable subgroups. Review of the literature revealed loss of chromosome 1 and Y as a possible anomaly for at least one subset of oncocytomas. The frequent finding of rearrangements involving chromosome 11 band q13 characterizes another subset of oncocytomas. We report the cytogenetic and pathological features of a renal oncocytoma diagnosed in a 72-year-old woman and found a t(9;11)(p23;q13) as a consistent abnormality. This supports the idea that translocations involving 11q13 define a further subset of oncocytoma. (C) Elsevier Science Inc., 1997.
Cytogenetic analysis and metabolic profiling reveal a subgroup of benign meningiomas with chromosomal instabilities and aggressive metabolism
2010
Meningiomas add up to 30% of Central Nervous System (CNS) tumours. Atypical meningiomas show a high index of recurrence 5 years after complete resection. Sometimes, meningiomas with histological diagnosis of benign meningioma show genetics characteristics of atypical meningioma. Aberrations of chromosomes 1, 14, and 22 are the most frequently reported abnormalities in meningiomas. In this communication we used cytogenetic, FISH, and NMR metabolic profiling for a molecular characterization of a series of 46 meningiomas. Tumor samples were obtained from 46 patients with meningioma (36 benign and 12 atypical) from the Clinic Hospital of Valencia. Cytogenetic analyses were performed by short-te…
Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.
2010
We report on a 4-year-old girl with severe developmental delay, absent speech, and chromosome 22q13.3 deletion (Phelan-McDermid syndrome), karyotype 46,XX.ish del(22)(q13.31qter)(ARSA-,N85A-,SHANK3-). At the age of 3 years, she needed an emergency liver transplantation because of fulminant hepatic failure, most likely caused by hyperacute autoimmune hepatitis triggered by a viral infection. This is the second report of a patient with 22q13.3 deletion and fulminant liver failure. By array-CGH we identified in this patient a 5.675 Mb terminal deletion (22q13.31 --> qter; including approximately 55 genes; from NUP50 to RABL2B) and in the previous patient a 1.535 Mb deletion (22q13.32 --> qter;…
<p class="HeadingRunIn"><strong><em>Charybdis glaucophylla</em> (Asparagaceae), a new species from Sardinia</strong><…
2012
Charybdis glaucophylla (Asparagaceae), a new species from Sardinia, is described and illustrated. It is a diploid species with 2n = 20 chromosomes growing along the rocky coast, sandy dunes and mountain top in the south-western part of the island. Within the genus, this species results taxonomically well isolated and differentiated due to relevant morphological and phenological features, such as the leaves wide and short, very rigid and glaucous-pruinose, as well as the very late foliation (winter). It shows only some relationships with C. pancration for the whitish bulb tunics and the diploid chromosome complement, and with C. maura and C. aphylla due to the glaucous leaves.
Notes on the karyology, genetics and ecology of Genista sect. Voglera in Sicily
2012
To investigate the biosystematic and genetic relationships among Sicilian species of Genista sect. Voglera, four populations of three species, Genista aristata C. Presl, Genista cupanii Guss., and Genista madoniensis Raimondo, have been studied. Genista madoniensis is tetraploid, with a chromosome number of 2n = 48, as are the other two species. An isozyme study showed that G. madoniensis is taxonomically closer to G. aristata than to G. cupanii, the latter possessing four unique alleles. The results are discussed in the context of the ecological characteristics of each species.
Reconstructing the Phylogeny of the Human Chromosome 4 Synteny using Comparative Karyology and Genomic Data Analysis
2010
Abstract This work focuses on the evolution of the architecture of human chromosome 4 (HSA4) through the analysis of chromosomal regions that have been conserved over time, and the comparison of regions that have been involved in different rearrangements in placental lineages. As with most elements of the human genome, HSA4 is considered to be evolutionarily stable. A more detailed analysis indicates that the syntenic association has been reshuffled by a series of rearrangements, yielding different chromosomes in various taxa. In its ancestral eutherian state, HSA4 has a syntenic association with HSA8p. We investigated the complex origin of this human chromosome using three different approa…
Crocidura cossyrensis Contoli, 1989 (Mammalia, Soricidae): karyotype, biochemical genetics and hybridization experiments
2004
The shrew Crocidura cossyrensis Contoli, 1989 from Pantelleria (I), a Mediterranean island 100 km south of Sicily and 70 km west from Tunisia, was investigated in order to understand its origin and its relationship with C. russula from Tunisia, Morocco and Switzerland. With the exception of a single heterozygote centric fusion, C. cossyrensis had a karyotype identical with that of C. russula from Tunisia (2N = 42, NF = 70 to 72), but it differed from C. russula from Morocco and Switzerland (2N = 42, NF = 60). The former have 5-6 pairs of chromosomes with small arms that are acrocentric in the latter. Genetic comparisons with allozyme data revealed small genetic distance (0.04) between C. co…
Karyotypes in two species of the genusHippocampus (Pisces: Syngnatiformes)
1988
Diploid modal numbers of chromosomes 2n=48 forHippocampus ramulosus and 2n=44 forH. hippocampus, collected in the Gulf of Palermo in May 1985, are established. No sex-linked heteromorphic pairs are observed in the two species analyzed. The karyotype ofH. hippocampus seems to be a derived condition.
Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12
2012
BACKGROUND: The exstrophy-epispadias complex (BEEC) is a urogenital birth defect of varying severity. The causes of the BEEC are likely to be heterogeneous, with individual environmental or genetic risk factors still being largely unknown. In this study, we aimed to identify de novo causative copy number variations (CNVs) that contribute to the BEEC. METHODS: Array-based molecular karyotyping was performed to screen 110 individuals with BEEC. Promising CNVs were tested for de novo occurrence by investigating parental DNAs. Genes located in regions of rearrangements were prioritized through expression analysis in mice to be sequenced in the complete cohort, to identify high-penetrance mutati…
The genus Isoëtes L. (Lycophyta, Isoëtaceae): Synthesis of karyological data
2001
Summary A synthesis of relevant karyological data regarding the genus Isoetes is given, with an up-to-date check list of chromosome numbers including 152 records referring to 67 taxa (62 species and 5 infraspecific taxa) and 16 hybrids. Total of different chromosome counts (considering two or more cytotypes for certain taxa, excluding hybrids) is 80. Probable base number is x = 11, even though x = 10 and x = 12 have been proposed for certain species. On the basis of data here summarized, the mean percentage of polyploidy is 61.2%; 31 taxa are diploids (38.8%), 28 are tetraploids (35.0%), 8 are hexaploids (10.0%), with a few species each which are tri-, penta-, octo-, deca- and dodeca-ploids…