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An Infant Born to a Mother with Gestational Diabetes Presenting with 49,XXXXY Syndrome and Renal Agenesis-A Case Report

49,XXXXY is a rare sex chromosome polysomy with an incidence of 1 in 85 000 male births. It has a characteristic triad of mental retardation, skeletal malformation and hypogonadism. This is the first case report of a child with 49,XXXXY syndrome and renal agenesis. This child was referred for geneti...

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Autors principals: Sumathipala, Dulika, Gamage, Thilini, Wijesiriwardena, Bandula, Jayasekara, Rohan W., Dissanayake, Vajira H.W.
Format: Artigo
Idioma:Inglês
Publicat: Galenos Publishing 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3537292/
https://ncbi.nlm.nih.gov/pubmed/23032147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/Jcrpe.764
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