Results 211 to 220 of about 51,568 (249)
Some of the next articles are maybe not open access.
Kallmann syndrome associated with complex chromosome rearrangement
American Journal of Medical Genetics, 1993AbstractWe report on a male with Kallmann syndrome (KS) and an apparently balanced complex chromosome rearrangement (CCR): 46,XY,t(3;9)(9;12)(q13.2;q21.2p13;q15). This is the first known report of a CCR in the KS and the second reported case of a definitive autosomal chromosome abnormality with KS.
A C, Casamassima +3 more
openaire +2 more sources
A complex rearrangement of chromosome 7 in human astrocytoma
Cancer Genetics and Cytogenetics, 2004Chromosome 7 is a frequent site of cytogenetic aberrations in human astrocytomas. One region that is often targeted in human astrocytomas is on 7p. The U251 human glioblastoma cell line has a region of gain of genetic material on 7p similar to that seen in human astrocytomas.
Anjan, Misra +3 more
openaire +2 more sources
Preimplantation genetic diagnosis for complex chromosome rearrangements
American Journal of Medical Genetics Part A, 2008AbstractComplex chromosome rearrangements (CCR) are structural rearrangements that involve more than two breakpoints. The most common ones involve three chromosomes and three breakpoints, but double translocations can also occur. Theoretically, the potential for chromosome imbalance in the gametes of CCR carriers is higher than for simple ...
T, Escudero +3 more
openaire +2 more sources
Complex chromosomal rearrangement and multiple spontaneous abortions
Human Genetics, 1986We report on a woman with a balanced complex chromosomal rearrangement (CCR) involving chromosomes 7, 10, and 21. She is the third individual with an apparently de novo CCR to be ascertained by repeated fetal wastage. Both familial and de novo CCRs are associated with recurrent spontaneous abortions.
J L, Gorski +3 more
openaire +2 more sources
Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q
Cytogenetic and Genome Research, 2016Complex chromosome rearrangements (CCRs) are unusual structural chromosome alterations found in humans, and to date only a few have been characterized molecularly. New mechanisms, such as chromothripsis, have been proposed to explain the presence of the CCRs in cancer cells and in patients with congenital disorders and/or mental retardation. The aim of
Javier, Del Rey +4 more
openaire +2 more sources
Genes, Chromosomes and Cancer, 1996
In many human cancers the presence of marker chromosomes or unbalanced translocations prevents complete karyotypic analysis. Chromosome microdissection has become an increasingly important method for assessing chromosome rearrangements. However, most studies using chromosome microdissection have been carried out on established cancer cell lines that ...
P, Jonveaux +5 more
openaire +2 more sources
In many human cancers the presence of marker chromosomes or unbalanced translocations prevents complete karyotypic analysis. Chromosome microdissection has become an increasingly important method for assessing chromosome rearrangements. However, most studies using chromosome microdissection have been carried out on established cancer cell lines that ...
P, Jonveaux +5 more
openaire +2 more sources
Complex familial rearrangement of chromosome 9p24.3 detected by FISH
American Journal of Medical Genetics, 1998We describe a newborn male with minor facial anomalies, pyloric stenosis, and a chromosome rearrangement that involves deletion and addition of material at 9p24.3. Routine studies showed a 46, XY, add (9) (p24) karyotype. Fluorescence in situ hybridization (FISH) with two different whole chromosome probes for chromosome 9 failed to identify whether the
G M, Repetto +3 more
openaire +2 more sources
A balanced complex chromosomal rearrangement (BCCR) with phenotypic effect
Clinical Genetics, 1991The authors report on a case of balanced complex chromosomal rearrangement (BCCR) with phenotypic effect, describe the dysmorphisms and malformations observed, and discuss the various pathogenetic mechanisms. On the basis of these considerations, they underline the need for careful reporting of examined cases, distinguishing the characteristic signs ...
G, Del Porto +5 more
openaire +2 more sources
Complex chromosomal rearrangements induced in vivo by heavy ions
Cytogenetic and Genome Research, 2004It has been suggested that the ratio complex/simple exchanges can be used as a biomarker of exposure to high-LET radiation. We tested this hypothesis in vivo, by considering data from several studies that measured complex exchanges in peripheral blood from humans exposed to mixed fields of low- and high-LET radiation.
DURANTE, MARCO +5 more
openaire +3 more sources
Complex chromosomal rearrangements.
Genetic counseling (Geneva, Switzerland), 2007Complex Chromosomal Rearrangements (CCRs) are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. CCRs preferentially occur during spermatogenesis and are transmitted in families through oogenesis.
openaire +1 more source