Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

@article{Bernardini2009RecurrentMA,
  title={Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports},
  author={Laura Bernardini and Stefania Gimelli and Cristina Giovanna Gervasini and Massimo Carella and Anwar Baban and Giada Frontino and Giancarlo Barbano and Maria Teresa Divizia and Luigi Fedele and Antonio Novelli and Fr{\'e}d{\'e}rique B{\'e}na and Faustina Lalatta and Monica Miozzo and Bruno Dallapiccola},
  journal={Orphanet Journal of Rare Diseases},
  year={2009},
  volume={4},
  pages={25 - 25}
}
BACKGROUND Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. METHODS AND RESULTS we report on two patients affected by MRKH syndrome in which… CONTINUE READING

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