Results 1 to 10 of about 49,297 (181)

Complex chromosomal rearrangements associated with congenital erythrophagocytotic histiocytosis

Clinical Genetics, 1998
We describe a patient with a congenital malignant blood disorder and a constitutional de novo chromosomal rearrangement that includes four breakpoints. By conventional cytogenetic analysis an obviously reciprocal balanced translocation with the breakpoints 1p36 and 5q11.2 was diagnosed.
S, Edelhoff, C, Grond-Ginsbach, F, von Eggeling, D, Körholz, U, Göbel, G, Senger   +5 more
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Complex chromosomal rearrangements.

Genetic counseling (Geneva, Switzerland), 2007
Complex 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.
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A balanced complex chromosomal rearrangement (BCCR) with phenotypic effect

Clinical Genetics, 1991
The 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, P, Grammatico, S, De Sanctis, M, Esposito, C, Di Rosa, C, Romano   +5 more
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IDENTIFICATION OF A COMPLEX CHROMOSOME REARRANGEMENT INNEUROSPORA CRASSA

Canadian Journal of Genetics and Cytology, 1974
A complex chromosome rearrangement has been identified using predominantly genetic, but some cytological criteria, in crosses heterozyous for the rearrangement. The rearrangement involves the insertion of a segment of LG I into LG IV in an inverted position with respect to centromere, and a segment of LG IV reciprocally inserted into LG I, possibly in ...
A J, Griffiths, A M, Delange, J H, Jung
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Complex chromosomal rearrangements induced in vivo by heavy ions

Cytogenetic and Genome Research, 2004
It 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, K. Ando, Y. Furusawa, G. Obe, K. George, F. A. Cucinotta   +5 more
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Complex familial rearrangement of chromosome 9p24.3 detected by FISH

American Journal of Medical Genetics, 1998
We 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, J, Wagstaff, B R, Korf, J H, Knoll   +3 more
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Hybrid Sequencing Characterization of Complex Chromosomal Rearrangements

Complex chromosomal rearrangements (CCRs), defined as structural variants involving more than two chromosomes or multiple breakpoint junctions, are challenging to resolve, and causal mutations often go unnoticed in genome studies. Short-read whole-genome sequencing enables the characterization of rearrangement junctions in unique sequences.
Anna, Lindstrand, Jesper, Eisfeldt
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Complex chromosomal rearrangements in patients with chronic myeloid leukemia

Cancer Genetics and Cytogenetics, 2006
During progression of chronic myeloid leukemia (CML) from the chronic to the accelerated phase and/or blast crisis, clonal evolution with nonrandom secondary aberrations such as +8, +Ph, i(17q), +19, -Y, +21, +17, and -7 is frequently observed. Complex chromosomal rearrangements (CCR) are rather rare, and the significance and frequency of different ...
Libuse, Babicka, Zuzana, Zemanova, Lenka, Pavlistova, Jana, Brezinova, Sarka, Ransdorfova, Lucie, Houskova, Jana, Moravcova, Hana, Klamova, Kyra, Michalova   +8 more
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Complex chromosome rearrangements in prenatal diagnosis

European journal of human genetics, 2004
Complex chromosome rearrangements (CCR) are defined as reciprocal exchanges between three or more chromosomes. It has been observed that most CCR carriers are female. CCr are very rare, with the risk for phenotypic abnormalities increasing as the number of chromosomes and chromosomal breaks involved in the rearrangement increases. The normal phenotypes
Mužinić-Belinec, Dubravka, Lasan Trčić, Ružica, Begović, Davor, Tonković Đurišević, Ivana   +3 more
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Complex Chromosome Rearrangements (CCR)

2023
Claudia Behrend, Javad Karimzad Hagh, Parvin Mehdipour, Heinz Schott, Gesa Schwanitz   +4 more
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