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.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Li Hong, Choy Kwong Wai, Lei Yun-Ping, Wang Wei, Wang Hong-Yan, Chen Ying
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.
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.