Influence of advanced age of maternal grandmothers on Down syndrome

Malini, Suttur S.; Ramachandra, Nallur B.

doi:10.1186/1471-2350-7-4

Cited by 54 publications

(47 citation statements)

References 25 publications

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“…Strong associations have been found between maternal age and the prevalence of many birth defects, such as Down syndrome (Cuckle, 2005;Malini and Ramachandra, 2006;Newberger, 2000). The effect of paternal age on birth defect rates has not been as well studied, and the few studies that have been done have yielded inconsistent results.…”

Section: Introductionmentioning

confidence: 99%

Association of paternal age with prevalence of selected birth defects

Archer

Langlois

Suarez

et al. 2006

Birth Defects Research

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BACKGROUND: Unlike maternal age, the effect of paternal age on birth defect prevalence has not been well examined. We used cases from the Texas birth defect registry, born during 1996-2002, to evaluate the association of paternal age with the prevalence of selected structural birth defects. METHODS: Poisson regression was used to calculate prevalence ratios (PRs) and 95% confidence intervals (CIs) associated with paternal age for each birth defect, adjusting for maternal age, race/ethnicity, and parity. RESULTS: Relative to fathers ages 25-29 years, fathers 20-24 years of age were more likely to have offspring with gastroschisis (PR 1.47, 95% CI: 1.12-1.94), and fathers 40þ years old were less likely to have offspring with trisomy 13 (PR 0.40, 95% CI: 0.16-0.96). No association was seen between paternal age and prevalence of anencephaly and encephalocele. A selection bias was observed for the other birth defects in which cases of younger fathers were more often excluded from study. CONCLUSIONS: In studies of birth defect risk and paternal age, the source of information may affect the validity of findings.

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Section: Introductionmentioning

confidence: 99%

Association of paternal age with prevalence of selected birth defects

Archer

Langlois

Suarez

et al. 2006

Birth Defects Research

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“…This leads to a suboptimal resumption of first and second meiotic divisions a change in ovarian functioning due to suboptimal degradation of uterine environment, which are needed for proper meiotic segregation in the germ cells of her daughter. The nonavailability or nonfunctioning of proteins leads to impairment in the meiotic process, which in turn results in nondisjunction of chromosome in the oocytes of the daughter (Malini and Ramachandra 2006). This event takes place during the embryogenesis of the mothers of the sex chromosomal aneuploidy children when she was in grandmother's womb.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, Malini and Ramachandra (2006) have reported the age of maternal grandmother at the time of birth of mother is the risk factor for the occurrence of Down syndrome in Indian families. Similarly, in the present study, the maternal grandmother of control families produced maximum number of normal children in their young age.…”

Section: Discussionmentioning

confidence: 99%

“…Efforts to recapitulate age dependent nondis-junction in a mammalian experimental system have so far been unsuccessful. Malini and Ramachandra (2006) have reported that in India the increased numbers of children with Down syndrome are born to young mothers and the age of maternal grandmother at the time of birth of the mother is a risk factor for the occurrence of Down syndrome. However, there are no reports cited in the literature about the influence of maternal grandparental age in causing sex chromosomal aneuploidy.…”

Section: Introductionmentioning

confidence: 99%

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Advanced Maternal Grandmother Age is a Risk Factor in Causing Sex Chromosomal Aneuploidy

Malini

Savitha

Krishnamurthy

et al. 2007

International Journal of Human Genetics

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Majority of the chromosomal abnormalities are incompatible with embryonic or fetal survival but trisomy 21 and sex chromosomal trisomies have a much higher viability surviving to term. In India, increased numbers of children with sex chromosomal aneuploidy are born to young mothers. Therefore, detailed analysis of the families with sex chromosomal aneuploidy is needed to find out the possible causative factors for nondisjunction. Twenty five families of suspected sex chromosomal aneuploidy children were investigated for cytogenetic analysis and pedigrees were constructed for these families. As controls 100 randomly selected families belonging to different religions were used. Of the 25 sex chromosomal aneuploidy cases studied, 16 were Turners with 45, XO chromosomes and 9 were Klinefelters with 47, XXY chromosomes. The number of sex chromosomal aneuploidy births was greater for the young mothers than the advanced age mothers. The logistic regression of case-control study of sex chromosomal aneuploidy children revealed that the odds ratio for the age of maternal grandmother was significant when all the four variables were used once at a time. However, the effect of age of mother and father was smaller than the effect of age of maternal grandmother. For every year of advancement of age of the maternal grandmother, the risk (odds) of births of sex chromosomal aneuploidy children increases by 36%. Therefore, the age of the maternal grandmother at the time of birth of mother is a risk factor for the occurrence of sex chromosomal aneuploidy.

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“…No obstante, el 80 % de los individuos con síndrome de Down nacen de mujeres jóvenes no mayores de 35 años (5). Además, la edad de las abuelas maternas en el momento de la concepción de la madre se ha relacionado como factor de riesgo (6).…”

Section: Polimorfismos De Apoe En El Síndrome De Downunclassified

Polimorfismos del gen ApoE en individuos con síndrome de Down y sus progenitores en una población colombiana

2012

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Introducción. Los polimorfismos en el gen ApoE se han examinado en el síndrome de Down debido a la relación existente de la isoforma E4 con la demencia de tipo Alzheimer que aparece en los individuos con síndrome de Down. Objetivos. Determinar los polimorfismos en el gen ApoE en individuos con síndrome de Down y sus progenitores, y buscar su asociación. Materiales y métodos. Mediante PCR-RFLP, se analizaron los polimorfismos del gen ApoE en 134 individuos jóvenes con síndrome de Down, 87 madres y 54 padres del eje cafetero, y se compararon con una población control de 525 individuos sanos. Resultados. El alelo APOEε3 y el genotipo ε3/ε3 fueron los más frecuentes en todas las poblaciones. La frecuencia alélica de APOEε2 es muy baja y ε2/ε2 está ausente en las poblaciones con síndrome de Down y sus progenitores. El alelo APOEε4 fue más frecuente en individuos con síndrome de Down que en el resto de poblaciones analizadas. Al comparar las frecuencias alélicas y genotípicas entre las poblaciones con síndrome de Down y los progenitores con la población control, mediante la χ 2 de Pearson y los odds ratios por la prueba exacta de Fisher, no se encontraron diferencias estadísticamente significativas. Conclusiones. No se encontró asociación entre los polimorfismos del gen ApoE y el síndrome de Down. Es posible que el tamaño de la muestra o las influencias étnicas hubieran afectado estos resultados. Es necesario hacer otros estudios en poblaciones colombianas y evaluar la asociación con otros genes que se encuentran relacionados con la enfermedad de Alzheimer.Palabras clave: apolipoproteínas E, síndrome de Down, enfermedad de Alzheimer, alelos, genotipo, Colombia. APOE gene polymorphisms associated with Down syndrome in Colombian populationsIntroduction. Gene APOEε4 allele polymorphisms have been examined in Down syndrome because of the relationship between (a) the E4 isoform and (b) the type of Alzheimer's dementia that appears in individuals with Down syndrome. This isoform is considered a risk factor for Alzheimer´s disease development and has been associated with early death in Down syndrome. Objectives. The polymorphisms in the APOE gene were characterized for Down syndrome individuals and their parents, in order to detect associations between the APOE polymorphisms and Down syndrome. Materials and methods. APOE gene polymorphisms were detected by RFLP-PCR and analyzed in 134 young individuals with Down syndrome, 87 mothers and 54 fathers, residents of the departments of Quindío and Risaralda, Colombia. The controls were 525 healthy individuals. Results. The APOEε3 allele and ε3/ε3 genotype were most frequent in all the populations (83-90% and 70-78%). The allelic frequency of APOEε2 was very low and ε2/ε2 (3-7%) was absent in Down syndrome and their parents. The allele APOEε4 was more frequent (11% vs. 9%) in Down syndrome individuals than in the controls. Comparing the allelic and genotypic frequencies between the populations with Down syndrome and their parents with the controls using Pearson χ 2 test and Fisher'...

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Influence of advanced age of maternal grandmothers on Down syndrome

Cited by 54 publications

References 25 publications

Association of paternal age with prevalence of selected birth defects

Association of paternal age with prevalence of selected birth defects

Advanced Maternal Grandmother Age is a Risk Factor in Causing Sex Chromosomal Aneuploidy

Polimorfismos del gen ApoE en individuos con síndrome de Down y sus progenitores en una población colombiana

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