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Uncovering Rare Structural Chromosomal Rearrangements: Insights from Molecular Cytogenetics. [PDF]

Int J Mol Sci
Czakó M, Szabó A, Till Á, Zsigmond A, Hadzsiev K.   +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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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 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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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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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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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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