Results 201 to 210 of about 51,568 (249)

Complex chromosomal rearrangement in a woman with multiple miscarriages

American Journal of Medical Genetics, Part A, 1988
AbstractWe report on a 23‐yr‐old healthy female with repeated miscarriages and a de novo complex chromosomal rearrangement (CCR) involving chromosomes 1, 2, 5 and 11 with 5 breakpoints. A review of cases reported in the last five yr is provided.
Thomas Haaf, Katrin Kausch
exaly   +3 more sources

Complex chromosome rearrangements and congenital anomalies

American Journal of Medical Genetics, 1987
AbstractCongenital complex chromosome rearrangements (CCR) compatible with life are rare in man. Thus patients with CCR usually present considerable diagnostic difficulties both clinically and cytogenetically. We studied a 12‐year‐old mentally retarded male with minor congenital anomalies as described below and his first‐degree relatives.
Boris G. Kousseff, Pat Nichols, Yau‐Ping Essig, Karen Miller, Avery Weiss, Thomas A. Tedesco, John M. Opitz, James F. Reynolds   +7 more
openaire   +2 more sources

Complex chromosomal rearrangements in infertile males: complexity of rearrangement affects spermatogenesis

Fertility and Sterility, 2011
In this report, we describe 10 male cases of complex chromosome rearrangements (CCRs) with fertility problems: seven of them showed impairment of spermatogenesis, oligoasthenoteratozoospermia or azoospermia; in the other three cases, recurrent abortions were observed. The CCRs were characterized by conventional fluorescence in situ hybridization (FISH)
Ji Won, Kim, Eun Mi, Chang, Seung-Hun, Song, Sang Hee, Park, Tae Ki, Yoon, Sung Han, Shim   +5 more
openaire   +2 more sources

Familial complex chromosomal rearrangement resulting in a recombinant chromosome

American Journal of Medical Genetics, 2002
AbstractFamilial complex chromosomal rearrangements (CCRs) are rare and tend to involve fewer breakpoints and fewer chromosomes than CCRs that are de novo in origin. We report on a CCR identified in a child with congenital heart disease and dysmorphic features.
Sue Ann, Berend, Olaf A F, Bodamer, Stuart K, Shapira, Lisa G, Shaffer, Carlos A, Bacino   +4 more
openaire   +2 more sources

Complex Chromosomal Rearrangements

2018
Abstract Complex chromosome rearrangements (CCRs) include most of the rearrangements that would not be accounted for as “straightforward” classical categories. They may be translocations with three or more segments involved; or they may comprise a mix of translocation and, for example, inversion.
David J. Amor, R. J. McKinlay Gardner
openaire   +1 more source

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
openaire   +2 more sources

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
openaire   +2 more sources

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.
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources