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Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central Africa.
Mbuyi-Musanzayi, Sébastien; Lumaka, Aimé; Yogolelo Asani, Bienvenu; Lubala Kasole, Toni; Lukusa Tshilobo, Prosper; Kalenga Muenze, Prosper; Tshilombo Katombe, François; Devriendt, Koenraad.
Afiliación
  • Mbuyi-Musanzayi S; Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo ; Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo.
  • Lumaka A; Center for Human Genetics, University Hospitals, KU Leuven, UZ Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium ; Department of Pediatrics, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, Democratic Republic of Congo.
  • Yogolelo Asani B; Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo ; Department of Ophthalmology, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo.
  • Lubala Kasole T; Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo ; Department of Pediatrics, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo.
  • Lukusa Tshilobo P; Center for Human Genetics, University Hospitals, KU Leuven, UZ Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium ; Department of Pediatrics, University Hospitals, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, Democratic Republic of Congo.
  • Kalenga Muenze P; Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo ; Department of Gynecology, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo.
  • Tshilombo Katombe F; Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of Congo.
  • Devriendt K; Center for Human Genetics, University Hospitals, KU Leuven, UZ Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium.
Case Rep Genet ; 2014: 365031, 2014.
Article en En | MEDLINE | ID: mdl-25254124
ABSTRACT
Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. We here describe the clinical and genetic features and prognosis observed in a newborn with trisomy 13 from Central Africa. He presented the rare feature of preaxial polydactyly of the feet.
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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Case Rep Genet Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Case Rep Genet Año: 2014 Tipo del documento: Article