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Annals of pediatric endocrinology & metabolism · 2014

Mosaic Turner syndrome associated with schizophrenia.

СтатьяНазвание и аннотация: Перевод в очереди
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Jung Sook Young, Park Joo Won, Kim Dong Hyun, Jun Yong Hoon, Lee Jeong Seop, Lee Ji Eun

Аннотация

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.