Article
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
American journal of medical genetics. Part A - 1 Sept 2013
Tomaszewska Agnieszka, Podbiol-Palenta Agnieszka, Boter Marjan, Geisler Gabriela, Wawrzkiewicz-Witkowska Angelika, Galjaard Robert-Jan H, Zajączek Stanislaw, Srebniak Malgorzata I
Abstract excerpt
Interstitial 2q deletions are very rare chromosome abnormalities. The 2q32q33 deletion was proposed as a distinct entity with characteristic phenotype. Most patients have feeding problems, growth restriction, moderate to severe developmental delay, speech delay or lack of speech, high, prominent...
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