CONGENITAL COMPLEX CHROMOSOME REARRANGEMENTS (CCR)
نویسندگان
چکیده
منابع مشابه
Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements
Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions have been observed in genomic disorders. Recently, a chromosome catastrophe phenomenon termed chromothripsis, in which numerous genomic rearrangements are apparently acquired in one single catastrophic event, was described in multiple cancers. Here, we show that constitutionally acquired CGRs share similarities...
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Ciliates have two different types of nuclei per cell, with one acting as a somatic, transcriptionally active nucleus (macronucleus; abbr. MAC) and another serving as a germline nucleus (micronucleus; abbr. MIC). Furthermore, Oxytricha trifallax undergoes extensive genome rearrangements during sexual conjugation and post-zygotic development of daughter cells. These rearrangements are necessary b...
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A tandem duplication (D350(III,III] of the whiB to radB interval of linkage group III has been characterized. The gene order on the duplication-bearing chromosome is: centromere, whiB500, radB+, whiB+, radB24, bsgA5, acrC4. Slow-growing, duplication-bearing strains (yellow-spored, radiation-resistant) produced four classes of faster growing sectors involving the whiB and radB loci: white-spored...
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A method for selecting unlinked duplications of a part of the X chromosome of C. elegans is described. Five such duplications have been identified. One of them, Dp (X;V)1, is translocated to linkage group V, where it suppresses crossing over along the left half of linkage group V. Dp(X;V)1 homozygotes grow slowly and are sterile. The other four duplications are associated with chromosome fragme...
متن کاملPreimplantation Genetic Diagnosis (PGD) for chromosome rearrangements
• Chromosome rearrangements include Robertsonian and reciprocal translocations (the most common form of chromosome abnormality in humans, present in approximately 1 in 500 individuals), periand paracentric inversions, interand intra-chromosomal insertions, deletions, duplications, and complex chromosome rearrangements (CCRs). • In all cases presenting for PGD, the risk of viable abnormality sho...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1987
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198704010-00375