Abstract
The presence of a small supernumerary marker chromosome (SMC) in a karyotype creates a diagnostic dilemma, because the resulting duplications/triplications may cause abnormal development, depending on the location and size of the extra material. The most common SMC is the inv dup(15), the effect of which varies with size of triplication as well as the parent of origin. inv dup(22) is associated with the highly variable cat eye syndrome. Both are thought to be caused by U-type recombination between neighboring low-copy repeats (LCRs), resulting in both symmetric and asymmetric bisatellited dicentric supernumerary chromosomes. Studies are underway to associate the abnormal features of each syndrome with specific genes in the duplicated regions.
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© 2006 Humana Press Inc., Totowa, NJ
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McDermid, H.E., Wevrick, R. (2006). inv dup(15) and inv dup(22). In: Lupski, J.R., Stankiewicz, P. (eds) Genomic Disorders. Humana Press. https://doi.org/10.1007/978-1-59745-039-3_22
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DOI: https://doi.org/10.1007/978-1-59745-039-3_22
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