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Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts

RATIONALE: The karyotype 49,XXXXY is a rare form of Klinefelter syndrome usually presenting with ambiguous genitalia, facial dysmorphism, mental retardation, and a combination of cardiac, skeletal, and other malformations. PATIENT CONCERNS: We describe a 19-year-old man, whose chromosomal analysis o...

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Detalles Bibliográficos
Autores principales: Wei, Limin, Liu, Yi, Sun, Sufen, Tang, Yong, Chen, Shuchun, Song, Guangyao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6775424/
https://www.ncbi.nlm.nih.gov/pubmed/31574874
http://dx.doi.org/10.1097/MD.0000000000017342

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