Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5904990 | European Journal of Medical Genetics | 2012 | 4 Pages |
Abstract
⺠We report a girl with Feingold syndrome and a 4.4-Mb deletion in 2p24.3 â p24.2. ⺠Phenotype includes hearing loss, microcephaly, facial dysmorphisms and digit defects. ⺠Genotype includes a microdeletion encompassing FAM84A, NBAS, DDX1, MYCNOS and MYCN. ⺠Haploinsufficiency of MYCN is responsible for Feingold syndrome. ⺠Hearing loss, microcephaly and digit defects should suggest Feingold syndrome.
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Authors
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Shuenn-Dyh Chang, Shu-Hang Ng, Yu-Peng Liu, Jun-Wei Su, Wayseen Wang,