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

Volumn 20, Issue 3, 2009, Pages 225-234

  Biselli, J M ^a   Machado, F B ^b,c   Zampieri, B L ^a   Alves Da Silva, A F ^b   Goloni Bertollo, E M ^a   Haddad, R ^d   Eberlin, M N ^d   Vannucchi, H ^e   Carvalho, V M ^f   Medina Acosta, E ^c   Pavarino Bertelli, Érika Cristina ^a  

^a FACULDADE DE MEDICINA DE SÃO JOSÉ DO RIO PRETO   (Brazil)

^b Campos Dos Goytacazes   (Brazil)

^c UNIVERSIDADE ESTADUAL DO NORTE FLUMINENSE DARCY RIBEIRO   (Brazil)

^d UNIVERSITY OF CAMPINAS   (Brazil)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f Fleury   (Brazil)

Author keywords

Aneuploidy; Down syndrome; Folic acid; Genetic nondisjunction; Genetic polymorphisms; Klinefelter syndrome

Indexed keywords

FOLIC ACID; HOMOCYSTEINE; METHYLMALONIC ACID;

ANEUPLOIDY; ARTICLE; CASE REPORT; DOWN SYNDROME; FOLATE METABOLISM; GENETIC POLYMORPHISM; GENETIC RISK; HETEROZYGOSITY; HUMAN; INFANT; KARYOTYPE; KARYOTYPE 48,XXY; KLINEFELTER SYNDROME; MALE; RISK FACTOR; TRISOMY;

ADOLESCENT; ALLELES; ANEUPLOIDY; BRAZIL; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; DNA MUTATIONAL ANALYSIS; DOWN SYNDROME; FEMALE; FERREDOXIN-NADP REDUCTASE; FOLIC ACID; GENOTYPE; HEART DEFECTS, CONGENITAL; HETEROZYGOTE DETECTION; HOMOCYSTEINE; HOMOZYGOTE; HUMANS; INFANT; KLINEFELTER SYNDROME; MALE; MEIOSIS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); METHYLMALONIC ACID; NONDISJUNCTION, GENETIC; POLYMORPHISM, GENETIC; PREGNANCY; PREGNANCY IN ADOLESCENCE; SEX CHROMOSOME ABERRATIONS; TRISOMY;

EID: 70350180124     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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