Title |
Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci
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Published in |
Orphanet Journal of Rare Diseases, March 2011
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DOI | 10.1186/1750-1172-6-9 |
Pubmed ID | |
Authors |
Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard, Cédric Le Caignec, Christèle Dubourg, Philippe Loget, Bernard-Jean Paniel, Sylvie Odent, Véronique David, Isabelle Pellerin, Claude Bendavid, Daniel Guerrier |
Abstract |
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. The uterovaginal aplasia is either isolated (type I) or more frequently associated with other malformations (type II or Müllerian Renal Cervico-thoracic Somite (MURCS) association), some of which belong to the malformation spectrum of DiGeorge phenotype (DGS). Its etiology remains poorly understood. Thus the phenotypic manifestations of MRKH and DGS overlap suggesting a possible genetic link. This would potentially have clinical consequences. |
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Unknown | 1 | 100% |
Demographic breakdown
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Practitioners (doctors, other healthcare professionals) | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 1 | 2% |
Italy | 1 | 2% |
Unknown | 48 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 11 | 22% |
Student > Master | 7 | 14% |
Other | 6 | 12% |
Student > Bachelor | 4 | 8% |
Student > Doctoral Student | 4 | 8% |
Other | 10 | 20% |
Unknown | 8 | 16% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 18 | 36% |
Biochemistry, Genetics and Molecular Biology | 10 | 20% |
Agricultural and Biological Sciences | 5 | 10% |
Nursing and Health Professions | 3 | 6% |
Arts and Humanities | 1 | 2% |
Other | 6 | 12% |
Unknown | 7 | 14% |