Search results for "CHROMOSOME"
showing 10 items of 1175 documents
Chromosomal rearrangements in childhood acute myeloid leukemia and myelodysplastic syndromes.
1999
Recurrent chromosomal abnormalities present in the malignant cells of children with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) often correlate closely with specific clinical and biologic characteristics of the disease. Certain unique cytogenetic rearrangements are associated with distinct morphologic leukemic subtypes. These rearrangements should be detectable in most children with AML and MDS with the use of complementary molecular techniques such as fluorescence in situ hybridization (FISH), Southern blotting, and polymerase chain reaction. Apart from the diagnostic assessment, cytogenetic findings sometimes predict clinical outcome and thus also serve as prognostic …
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.
2003
Headache attacks and autonomic dysfunctions characterize migraine, a very common, disabling disorder with a prevalence of 12% in the general population of Western countries(1,2). About 20% of individuals affected with migraine experience aura, a visual or sensory-motor neurological dysfunction that usually precedes or accompanies the headache(3). Although the mode of transmission is controversial(4), population-based and twin studies have implicated genetic factors, especially in migraine with aura(5,6). Familial hemiplegic migraine is a hereditary form of migraine characterized by aura and some hemiparesis. Here we show that mutations in the gene ATP1A2 that encodes the alpha2 subunit of t…
Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections
2005
A boy with developmental delay, particularly of speech, a distinct face, antineutrophil cytoplasmic antibodies, and recurrent infections was found to have an apparently balanced de novo t(1;6)(q32.3;q22.3) translocation. Fluorescent in situ hybridisation with BAC/PAC clones and long range polymerase chain reaction products assessed in the human genome sequence localised the chromosome 1 breakpoint to a 9.8 kb segment within a hypothetical gene, LOC388735, and the chromosome 6 breakpoint to a 12.8 kb segment in intron 4 of the T-cell lymphoma breakpoint-associated target 1 (TCBA1) gene. Disruption and/or formation of TCBA1 fusion genes in T cell lymphoma and leukaemia cell lines suggests a r…
"KARYOTYPE, BANDING AND rDNA FISH IN THE SCARAB BEETLE ANOPLOTRUPES STERCOROSUS (COLEOPTERA SCARABAEOIDEA: GEOTRUPIDAE). DESCRIPTION AND COMPARATIVE …
2004
Six specimens of Anoplotrupes stercorosus (Coleoptera Scarabaeoidea: Geotrupidae) were analysed using conventional staining, banding techniques and fluorescent in situ hybridization with a ribosomal probe (rDNA FISH). Detailed karyotype description was also joined to a comparative analysis between present data and those previously reported for Thorectes intermedius [Chromosome Res. 7 (1999) 1]. The two species, both belonging to the tribe Geotrupini, show the same modal number but different autosomal morphology which is in contrast with the high chromosome stability argued for Geotrupinae during the last three decades. Moreover, a detailed comparison reveals the occurrence of a plesiomorphi…
Chromosomal polymorphism and patterns of viability in natural populations of Drosophila melanogaster from cellar and vineyard.
1991
Two neighbouring natural populations of Drosophila melanogaster have been analysed, one from a cellar habitat and the other from a vineyard outside. An extensive study of inversion polymorphism in the two populations has been carried out. Furthermore, the relationship between inversion polymorphism and the viability of the second chromosome has been studied. The data regarding the total frequency of inversion-carrying chromosomes indicate a lower frequency in the cellar population than in the vineyard population. Some possibilities that could explain the behaviour of the chromosomes from the cellar in relation to the peculiar environment of this habitat are discussed. New endemic inversions…
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutat…
1994
Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.
The parkin gene is not a major susceptibility locus for typical late-onset Parkinson's disease
2001
We investigated the parkin gene in 118 patients with typical Parkinson's disease (PD), i. e. in patients who had an onset of PD after the age of 45 years. The study group included 95 subjects with sporadic PD and 23 subjects from 18 families with autosomal recessive PD. No pathogenetic mutations in the parkin gene were detected either in familial or in sporadic patients. Our findings indicate that the parkin gene is not involved in the pathogenesis of classic late-onset PD.
Histologically benign metastatic meningioma: morphological and cytogenetic study. Case report.
2003
✓ The authors report on a 75-year-old man with histologically benign fibroblastic meningioma metastasizing to the lung, liver, spleen, and kidney. The original tumor exhibited a complex karyotype involving different structural and numerical anomalies associated with monosomy of chromosome 22. The implication of chromosome 1p36 was confirmed by fluorescence in situ hybridization in most interphase nuclei. Metastases occurred 4 months after incomplete resection with prior therapeutic embolization. The recurrent tumor in turn displayed anaplastic features and an increased Ki-67 labeling index. Genetic alterations in such morphologically benign meningiomas have been implicated in the malignant …
Spermatocyte chromosome analysis of Helicella virgata (Pulmonata: Helicidae): silver-stained and C-banded chromosomes.
1991
Chromosome numbers of the snail Helicella virgata from the fields of Castellammare del Golfo (Sicily) are n = 26 and 2n = 52. Silver-staining analyses of testicular cells suggest that both mitotic and meiotic chromosomes are involved in nucleolus organization. A within-individual variability in NOR-banding pattern is present in each of the 20 specimens analyzed.
Karyological studies in Coris julis (Pisces, Labridae).
1988
In the present investigation the diploid number 2n = 48 (NF = 58) has been determined for females, primary males, and secondary males of Coris julis from the Gulf of Palermo. Differentiated sex chromosomes have not been observed in the population under study.