Article
Microdeletion on 3p25 in a patient with features of 3p deletion syndrome.
American journal of medical genetics. Part A - 1 Oct 2012
Peltekova Iskra T, Macdonald Athen, Armour Christine M
Abstract excerpt
The rare 3p deletion syndrome presents with a spectrum of anomalies caused by deletions of variable lengths within the short arm of chromosome 3. While most of these deletions involve the 3p terminus, interstitial deletions may also give rise to features of the syndrome. We have detected an interstitial deletion of 643 kb in a patient who displayed many of the typical 3p deletion features. This patient had a...
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