Английская Википедия:Bazex–Dupré–Christol syndrome

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Шаблон:About Шаблон:Infobox medical condition (new)

Bazex–Dupré–Christol syndrome is a very rare condition inherited in an X-linked dominant fashion. Physical findings typically include follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis, and hypohidrosis.[1]

Genetics

BCDS is inherited in an X-linked dominant manner. This means the defective gene responsible for the disorder is located on the X chromosome, and only one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who has the disorder. Males are normally hemizygous for the X chromosome, having only one copy. As a result, X-linked dominant disorders usually show higher expressivity in males than females.Шаблон:Citation needed

As the X chromosome is one of the sex chromosomes (the other being the Y chromosome), X-linked inheritance is determined by the sex of the parent carrying a specific gene and can often seem complex. This is because, typically, females have two copies of the X-chromosome, while males have only one copy. The difference between dominant and recessive inheritance patterns also plays a role in determining the chances of a child inheriting an X-linked disorder from their parentage.Шаблон:Citation neededA locus of Xq24-q27 has been described.[2]

Diagnosis

Genetic testing of x linked dominant pattern associated with various neoplasm nnn (e.g. basal cell carcinoma)Шаблон:Citation needed

Treatment

Шаблон:Empty section

See also

References

Шаблон:Reflist

External links

Шаблон:Medical resources Шаблон:Medicine

  1. Bolognia, J (2008) "Dermatology," Mosby, Шаблон:ISBN.
  2. Шаблон:Cite journal