Article
A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect.
American journal of medical genetics. Part A - 1 Jul 2010
Bateman Mark S, Mehta Sarju G, Willatt Lionel, Selkirk Elizabeth, Bedwell Clare, Zwolinski Simon, Sparnon Leeanne, Simonic Ingrid, Abbott Kristin, Barber John C K
Abstract excerpt
Cytogenetically visible imbalances without phenotypic effect are still rare despite the extent of large-scale copy number variation in the normal population revealed by array CGH. Here we report on a phenotypically normal 30-year-old female with a de novo, cytogenetically visible, interstitial deletion of band 4q34. She was referred following three successive miscarriages, one of which was an intra-uterine death...
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