Results 151 to 160 of about 91,924 (199)

Kallmann syndrome associated with complex chromosome rearrangement

American Journal of Medical Genetics, 1993
AbstractWe 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, P L, Wilmot, B K, Vibert, L R, Shapiro   +3 more
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Preimplantation genetic diagnosis for complex chromosome rearrangements

American Journal of Medical Genetics Part A, 2008
AbstractComplex 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, A, Estop, J, Fischer, S, Munne   +3 more
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Complex chromosomal rearrangement and multiple spontaneous abortions

Human Genetics, 1986
We 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, B S, Emanuel, E H, Zackai, M, Mennuti   +3 more
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What Is a Complex Chromosome Rearrangement?

American Journal of Medical Genetics Part A, 2013
No single definition of a complex chromosome rearrangement (CCR) can adequately cover the whole range of possible structural rearrangements. There are highly complex CCRs with multiple breaks that involve three, four or more chromosomes, but there are also CCRs that involve just two chromosomes or even a single chromosome.
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Delineation of complex chromosomal rearrangements: evidence for increased complexity

Human Genetics, 2004
There is an assumption of parsimony with regard to the number of chromosomes involved in rearrangements and to the number of breaks within those chromosomes. Highly complex chromosome rearrangements are thought to be relatively rare, with the risk for phenotypic abnormalities increasing as the number of chromosomes and chromosomal breaks involved in ...
Caroline, Astbury, Laurie A, Christ, David J, Aughton, Suzanne B, Cassidy, Atsuko, Fujimoto, Beth A, Pletcher, Irwin A, Schafer, Stuart, Schwartz   +7 more
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Unstable transmission of a familial complex chromosome rearrangement

American Journal of Medical Genetics Part A, 2012
AbstractComplex chromosome rearrangements (CCRs) are rare genomic structural aberrations involving three or more breakpoints on two or more chromosomes. About one‐third of all CCRs are familial. Transmittance of such a CCR results either in genomic imbalance due to abnormal segregation at meiosis I or is stably passed on to the next generation. Here we
Ellen, van Binsbergen, Ron, Hochstenbach, Jacques, Giltay, Marielle, Swinkels   +3 more
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Complex chromosome rearrangements in an extraabdominal desmoid tumor

Cancer Genetics and Cytogenetics, 1988
Cytogenetic studies of an extraabdominal desmoid tumor revealed karyotypic abnormalities in 20 of 50 analyzed metaphases, with no less than 13 clonal marker chromosomes, 11 of which could be at least partially identified. The hypodiploid stemline karyotype was interpreted as: 43-45,XX,-1,-1, + der(1)(?::1p36----1q21::?) + der(1)t(1;?)(p11;?), + der(1) (
I, Karlsson, N, Mandahl, S, Heim, A, Rydholm, H, Willén, F, Mitelman   +5 more
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A complex balanced chromosomal rearrangement in repeated abortions

Human Genetics, 1987
A double balanced reciprocal translocation involving four chromosomes, t(1;19;6;14) (1p11; 19p11; 6q25; 14q21), was found in the phenotypically normal husband in a couple referred because of repeated abortions. Reciprocal translocations, t(6;14), had been transmitted by his mother, his father being apparently homozygous for a translocation comprising ...
A, Barros, M C, Tavares, S, Castedo, M S, Pereira, M P, Tavares, M, Almeida e Costa   +5 more
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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 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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