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KMID : 1036920140190010042
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Annals of Pediatric Endocrinology & Metabolism
2014 Volume.19 No. 1 p.42 ~ p.44
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Mosaic Turner syndrome associated with schizophrenia
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Jung Sook-Young
Park Joo-Won
Kim Dong-Hyun
Jun Yong-Hoon
Lee Jeong-Seop
Lee Ji-Eun
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Abstract
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Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HOPA gene within Xq13 is related to mental retardation, hypothyroidism, and schizophrenia. Our case may be a potential clue which supports the hypothesis for involvement of genes on X chromosome in development of schizophrenia. Further studies including comorbid cases reports are need in order to discern the cause of schizophrenia in patients having Turner syndrome.
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KEYWORD
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Turner syndrome, Schizophrenia, X chromosome, Mosaicism
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