نتایج جستجو برای: 49 xxxxy
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UNLABELLED We report the case of a 19-year-old boy, presenting several congenital malformations (facial dysmorphisms, cardiac and musculoskeletal abnormalities), mental retardation, recurrent respiratory infections during growth and delayed puberty. Although previously hospitalised in other medical centres, only psychological support had been recommended for this patient. In our department, gen...
BACKGROUND Sex chromosomal aneuploidies in males are rare diseases with an overwhelming involvement of endocrinological and auxological issues; less frequently, other anomalies are observed. Neuroradiological issues are often not taken into account in single patients, and neuroradiological examinations are rarely performed. CASE PRESENTATION Here, we report a boy with 48,XXXY/49,XXXXY mosaici...
Eight patients with XXXXY sex chromosomes are on record (Fraccaro, Kaijser, and Lindsten, I960; Miller, Breg, Schmickel, and Tretter, I96I; Fraser, Boyd, Lennox, and Dennison, I96I; Fraccaro, Klinger, and Schutt, I962; Barr, Carr, Pozsonyi, Wilson, Dunn, Jacobson, and Miller, I962; Pfeiffer, I962; Schade, Sch6ller, and T6berg, I963). In addition two similar patients with a mosaic pattern have b...
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