Article
Double aneuploidy (48,XXY,+21) of maternal origin in a child born to a 13-year-old mother: evaluation of the maternal folate metabolism.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2009
Biselli J M, Machado F B, Zampieri B L, Alves da Silva A F, Goloni-Bertollo E M, Haddad R, Eberlin M N, Vannucchi H, Carvalho V M, Medina-Acosta E, Pavarino-Bertelli E C
Abstract excerpt
The occurrence of non-mosaic double trisomy is exceptional in newborns. In this paper, a 48,XXY,+21 child, the parental origin of the extra chromosomes and the evaluation of the maternal folate metabolism are presented. The infant was born to a 13-year-old mother and presented with the typical clinical features of Down syndrome (DS). The origin of the additional chromosomes was maternal and most likely resulted...
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