Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features
نویسندگان
چکیده
منابع مشابه
Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features
Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, auti...
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BACKGROUND Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH), which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by M...
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ژورنال
عنوان ژورنال: Case Reports in Genetics
سال: 2014
ISSN: 2090-6544,2090-6552
DOI: 10.1155/2014/264947