Chromosome 14q11.2-q21.1 duplication: a rare cause of West syndrome
نویسندگان
چکیده
منابع مشابه
A Rare Case of Duplication of Chromosome 2 (q31.3q36.3) in a 4.5-year-old Boy and Review of the Literature
De novo duplication of 2q is very rare. Most cases of 2q duplications result from familial translocations, and are associated with simultaneous monosomy of another chromosome segment. To our knowledge and search in English literature there are less than 20 reported cases of isolated 2q duplication. Hereby we introduce a 4.5-year-old Iranian boy of a non-consanguineous marriage who was referred ...
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Urethral duplication is quite a rare congenital anomaly with ill-defined aetiology. Patients often present with penile deformity; recurrent urinary infections, urinary incontinence, serosal discharge from the accessory urethra, and difficulty in urinating. Urethral duplication is most commonly grouped according to the Efmann classification. It has 3 main types as Type I, II, and III. There is n...
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ژورنال
عنوان ژورنال: Epileptic Disorders
سال: 2018
ISSN: 1294-9361,1950-6945
DOI: 10.1684/epd.2018.0972