tailieunhanh - Báo cáo khoa hoc:" The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches | Journal of Negative Results in BioMedicine BioMed Central Open Access Mini-review The Mayer-Rokitansky-Kuster-Hauser syndrome congenital absence of uterus and vagina - phenotypic manifestations and genetic approaches Daniel Guerrier 1 Thomas Mouchel2 Laurent Pasquier3 and Isabelle Pellerin1 Address 1CNRS UMR 6061 Génétique et Développement Université de Rennes 1 Groupe IPD IFR140 GFAS Faculté de Médecine Rennes France 2Unité de Génétique Médicale Hôpital Sud Rennes France and 3Service de Gynécologie Obstétrique CHU de Rennes Rennes France Email Daniel Guerrier - Thomas Mouchel - Laurent Pasquier - Isabelle Pellerin - Corresponding author Published 27 January 2006 Received 01 July 2005 _k n__ I- I Accepted 27 January 2006 Journal of Negative Results in BioMedicine 2006 5 1 doi 1477-5751-5-1 This article is available from http content 5 1 1 2006 Guerrier et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract The Mayer-Rokitansky-Kuster-Hauser MRKH syndrome affects at least 1 out of 4500 women and has for a long time been considered as a sporadic anomaly. Congenital absence of upper vagina and uterus is the prime feature of the disease which in addition is often found associated with unilateral renal agenesis or adysplasia as well as skeletal malformations MURCS association . The phenotypic manifestations of MRKH overlap various other syndromes or associations and thus require accurate delineation. Since MRKH manifests itself in males the term GRES syndrome Genital Renal Ear Skeletal might be more appropriate when applied to both sexes. The MRKH syndrome when described .