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+44 28 3718 0055Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Juan Carlos Guinarte-Cabada Author
Subjects of specialization
Affiliation
48,XXYY; Hypergonadotropic hypogonadism; Sex chromosomal aneuploidy; Morbid obesity
Division of Medical and Molecular Genetics, University Clinical Hospital of Santiago de Compostela, Spain
Biography
| Juan Carlos Guinarte-Cabada Division of Medical and Molecular Genetics, University Clinical Hospital of Santiago de Compostela, Spain |
Publications
Case Report Open Access
Morbid Obesity and Psychiatric Disorders Hiding a Sex Aneuploidy: A Case of Late Diagnosis of 48,XXYY Syndrome
Author(s): Antía Fernández-Pombo, Pablo San Millán-Tejedor, Cristina Guillín-Amarelle, Ana I. Castro, Juan Carlos Guinarte-Cabada, Margarita Ventura-Victoria and David Araújo-Vilar
48,XXYY syndrome is a rare sex chromosomal aneuploidy, with a prevalence of 1:18,000 - 1:50,000 males. Despite it being considered as a variant of Klinefelter syndrome, it is now known to be a distinct entity, differing from the latter due to a greater degree of severity and prevalence of psychiatric disorders and mental deficiency. We present the case of a 37-year-old man with psychiatric disease who attended our department due to morbid obesity, identified as a 48,XXYY genotype. Clinical evaluation and cytogenetic analysis is presented.
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