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Identification of a balanced complex chromosomal rearrangement involving chromosomes 3, 18 and 21 with recurrent abortion: case report

✍ Scribed by Yaping Liao,Liqun Wang,Ding Zhang,Changqing Liu


Book ID
126380147
Publisher
BioMed Central
Year
2014
Tongue
English
Weight
458 KB
Volume
7
Category
Article
ISSN
1755-8166

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De novo apparently balanced complex chro
✍ Batanian, Jacqueline R.; Eswara, Marthand S. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 117 KB πŸ‘ 3 views

We describe a complex and unique, de novo apparently balanced translocation involving chromosomes 4, 18, and 21 with 4 breakpoints, in a patient who was referred for an evaluation of possible fragile-X syndrome. Fluorescence in situ hybridization (FISH) confirmed the complexity of the rearrangement

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## Abstract Congenital complex chromosomal rearrangement (CCR) compatible with life are rare in man. We report on a new case of apparently balanced CCR in a 30‐month‐old boy with mental retardation and minor anomalies. This CCR consists in a 3‐way reciprocal translocation (2;3;16) and an insertion