DOUBLE ANEUPLOIDY (48,XXY,+21) OF MATERNAL ORIGIN IN A CHILD BORN TO A 13-YEAR-OLD MOTHER: EVALUATION OF THE MATERNAL FOLATE METABOLISM

Autor(es):Mostrar menos -

Biselli, J. M. ^[1] ; Machado, F. B. ^{[2, 3]} ; Zampieri, B. L. ^[1] ; Da Silva, A. F. Alves ^[2] ; Goloni-Bertollo, E. M. ^[1] ; Haddad, R. ^[4] ; Eberlin, M. N. ^[4] ; Vannucchi, H. ^[5] ; Carvalho, V. M. ^[6] ; Medina-Acosta, E. ^[3] ; Pavarino-Bertelli, E. C. ^[1]

Afiliação do(s) autor(es)

^[1] Fac Med Sao Jose do Rio Preto FAMERP, Dept Biol Mol, Unidade Pesquisa Genet & Biol Mol UPGEM, BR-15090000 Sao Jose Do Rio Preto, SP - Brazil

^[2] Hosp Escola Alvaro Alvim, Fundacao Benedito Pereira Nunes, Campos dos Goytacazes, RJ - Brazil

^[3] Univ Estadual Norte Fluminense, NUDIM, Campos dos Goytacazes, RJ - Brazil

^[4] Univ Estadual Campinas, UNICAMP, Dept Quim Organ, Inst Quim, Campinas, SP - Brazil

^[5] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Clin Med, Ribeirao Preto, SP - Brazil

^[6] Ctr Med Diagnost Fleury, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: GENETIC COUNSELING; v. 20, n. 3, p. 225-234, 2009.
• Citações Web of Science: 5
• Assunto(s): Síndrome de Down Aneuploidia Ácido fólico Polimorfismo genético

Resumo

Double aneuploidy, (48,XXY,+21) of maternal origin in a child born to a 13-year-old mother: evoluation of the maternal folate metabolism: 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 from errors during the first meiotic division. Molecular analysis of 12 genetic polymorphisms involved in the folate metabolism revealed that the mother is heterozygous for the MTHFR C677T and TC2 A67G polymorphisms, and homozygous for the mutant MTRR A66G polymorphism. The maternal homocysteine concentration was 4.7 mu mol/L, a value close to the one considered as a risk factor for DS in our previous study. Plasma methylmalonic acid and serum folate concentrations were 0.17 mu mol/L and 18.4 ng/mL, respectively. It is possible that the presence of allelic variants for the folate metabolism and Hey concentration might have favored errors in chromosomal disjunction (hiring gametogenesis in this young mother. To our knowledge, this is the first patient with non-mosaic Down-Klinefelter born to a teenage mother, resulting from a rare fertilization event combining an abnormal 25,XX,+21 oocyte and a 23,Y spermatozoon. (AU)

• Processo FAPESP: 08/01432-3 - Dupla aneuploidia (48,xxy,+21) de origem materna em nativo de mae de 13 anos de idade: avaliacao do metabolismo do folato materno.
• Beneficiário: Erika Cristina Pavarino
• Modalidade de apoio: Auxílio à Pesquisa - Reunião - Brasil
• Processo FAPESP: 08/10932-0 - Polimorfismos genéticos da via metabólica do folato e suscetibilidade à não-disjunção do cromossomo 21.
• Beneficiário: Erika Cristina Pavarino
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 04/15944-5 - Avaliação genético-clínica e molecular em Síndrome de Down
• Beneficiário: Erika Cristina Pavarino
• Modalidade de apoio: Auxílio à Pesquisa - Regular