Cryptic duplication of the distal segment of 22q due to a... (2006)

Titel Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.
Gepubliceerd in European Journal of Medical Genetics, Vol. 49, p.384-395. ISSN 1769-7212.
Auteur Feenstra, I.; Koolen, D.A.; Pas, J. van der; Hamel, B.C.J.; Mieloo, H.; Smeets, D.F.C.M.; Ravenswaaij-Arts, C.M.A. van
Datum 2006
Type Artikel
Samenvatting Duplications of the proximal segment of chromosome 22q are not uncommon, like Cat-eye syndrome and duplications due to familial (11;22) translocations. However, duplications of the distal long arm of chromosome 22 (22qter) seem to be exceedingly rare. So far, duplications of 22q12 or 22q13 to 22qter have been described in 21 patients, of whom 13 had a pure duplication 22qter. Here we report on three new cases with a pure duplication of the distal part of 22q. The first patient carries a duplication of terminal 22q due to a de novo unbalanced translocation, 46,XX,der(21)t(21;22) (p13;q13.2), detected by NOR-staining, while the other patients have a familial cryptic duplication of terminal 22q due to an unbalanced translocation, 46,XY,der(21)t(21;22)(p10;q13.3). The last two patients were initially thought to have a polymorphic variant of 21p, but additional subtelomeric screening using FISH showed the extra material was derived from chromosome 22. Terminal duplications of 22qter may be more common than generally assumed, but due to its small size, especially when located on an acrocentric chromosome and/or possibly relatively mild phenotype remain undetected thus far.
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Persistent Identifier urn:nbn:nl:ui:22-2066/50952
Metadata XML
Repository Radboud Universiteit Nijmegen

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