A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1

We identified an identical and recurrent 9.4-Mbp deletion at chromosome bands 2p11.2-2p12, which occurred de novo in two unrelated patients. It is flanked at the distal and proximal breakpoints by two homologous segmental duplications consisting of low copy repeat (LCR) blocks in direct orientation,...

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Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: Stevens, Servi J C, Blom, Eveline W, Siegelaer, Ingrid T J, Smeets, Eric E J G L
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
Soggetti:
Short Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4666567/
https://ncbi.nlm.nih.gov/pubmed/24986827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.124
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