Results 141 to 150 of about 49,297 (181)

Cleft palate and complex chromosome rearrangements

Clinical Genetics, 1992
Two of three unrelated children with de novo congenital complex chromosome rearrangements (CCR) with more than four chromosome breaks had cleft lip and palate as one of several congenital anomalies. In patient 1, unilateral complete cleft of the primary and secondary palates accompanied severe ectrodactyly, bilateral posterior choanal atresia and ...
B G, Kousseff, P, Papenhausen, R L, Neu, Y P, Essig, C A, Saraceno   +4 more
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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
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A Complex Chromosome Rearrangement in a Boy with Autism

Journal of Developmental & Behavioral Pediatrics, 1992
Autism is a rare behavioral phenotype defined by a qualitative impairment in reciprocal social interaction, impairment in communication and imaginative activity, and a markedly restricted repertoire of activities and interests. It is the most severe and prototypical form of the general category of Pervasive Developmental Disorders of Childhood.
J O, Lopreiato, E A, Wulfsberg
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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
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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
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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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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
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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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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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