Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis.

نویسندگان

  • J L Simpson
  • R S Chaganti
  • J Mouradian
  • J German
چکیده

Growth and performance Prenatal onset growth deficiency + + Psychomotor retardation + + Decreased visual responsiveness + + Hearing loss + + Craniofacies Microcephaly + + Triangular face + + Micrognathia + + Prominent nasal bridge 0 + Hypoplastic nasal alae + Eyes Ptosis + + Short palpebral fissures 0 + Epicanthal folds + + Upward slanting palpebral fissures + Ears Malformed + + Preauricular pits + Other Polydactyly (postaxial) + (feet) + (hands) Cryptorchidism + + Heart murmur + + Limited joint mobility + Hernias +

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Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis.

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9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.

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Mixed germ cell tumor of ovary and clitoromegaly in Swyer's syndrome: a case report.

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A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient

Introduction Complete gonadal dysgenesis with 46 XY karyotype, also known as Swyer-James syndrome, is characterized by complete sex reversal with a female phenotype and unambiguous female external genitalia. Sex-determining region Y (SRY) gene mutations causing loss-of-function of the gene were identified in 10-15% of affected individuals. These individuals also have a high risk of developing t...

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عنوان ژورنال:
  • Journal of medical genetics

دوره 19 1  شماره 

صفحات  -

تاریخ انتشار 1982