Медицинская библиотека · The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2010

A novel 15bp micro-duplication in SF-1 gene showing diverse phenotypic spectrum in a Chinese family.

Li Hong, Choy Kwong Wai, Lei Yun-Ping, Wang Wei, Wang Hong-Yan, Chen Ying

Клинический случайСтатьяПеревод в очереди

Аннотация

OBJECTIVE

To determine the genetic cause of sex reversal in a Chinese family.

METHODS

Two sisters aged 21 and 20 years old were referred for primary amenorrhoea and poor secondary sexual development. They were subjected to clinical, endocrinologic and ultrasonographic investigation, and molecular analysis including cytogenetics, array CGH, SRY and SF-1 mutation screening.

RESULTS

A novel 15bp micro-duplication in the SF-1 gene in patients affected by 46,XY sex-reversal phenotype without dysgenesis.

CONCLUSION

The novel 15bp duplication of SF-1 gene affecting 46,XY females with diverse phenotypic spectrum. This provides new information for genetic counselling of disorders of sex development.

Для цитирования: Li Hong, Choy Kwong Wai, Lei Yun-Ping, Wang Wei, Wang Hong-Yan, Chen Ying. A novel 15bp micro-duplication in SF-1 gene showing diverse phenotypic spectrum in a Chinese family.. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 2010. DOI: 10.3109/14767051003678184.

Предметные рубрики MeSH

Asian People China DNA Mutational Analysis Female Gene Duplication Gonadal Dysgenesis, 46,XY Humans Phenotype Steroidogenic Factor 1 Young Adult

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