Origin of trisomy 21 in Down syndrome cases from a Spanish population registry

Gómez, David; Solsona, Eulàlia; Guitart, Míriam; Baena, Neus; Gabau, Elisabeth; Egozcue, J.; Caballín, M.R.

doi:10.1016/s0003-3995(00)00017-4

Cited by 19 publications

(15 citation statements)

References 11 publications

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“…Table 1 shows the breakdown of nondisjunction errors taken from a population-based study of infants born in Atlanta, GA, USA, between 1989-2002. These data are similar to other population-based series (e.g., Mikkelsen et al, 1995;Gomez et al, 2000) and indicate that over 90 % of nondisjunction errors leading to trisomy 21 occur in the oocyte and that the majority of those errors occur during the first stage of meiosis. As discussed below, there is evidence that perhaps almost all nondisjunction errors of chromosome 21 in oocytes are initiated during MI.…”

Section: Maternal Nondisjunctionsupporting

confidence: 66%

Risk factors for nondisjunction of trisomy 21

Sherman

Freeman

Allen

et al. 2005

Cytogenet Genome Res

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The leading cause of Down syndrome (DS) is nondisjunction of chromosome 21 occurring during the formation of gametes. In this review, we discuss the progress made to identify risk factors associated with this type of chromosome error occurring in oogenesis and spermatogenesis. For errors occurring in oocytes, the primary risk factors are maternal age and altered recombination. We review the current progress made with respect to these factors and briefly outline the potential environmental and genetic influences that may play a role. Although the studies of paternal nondisjunction are limited due to the relatively small proportion of errors of this type, we review the potential influence of paternal age, recombination and other environmental and genetic factors on susceptibility. Although progress has been made to understand the mechanisms and risk factors that underlie nondisjunction, considerably more research needs to be conducted to dissect this multifactorial trait, one that has a considerable impact on our species.

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Section: Maternal Nondisjunctionsupporting

confidence: 66%

Risk factors for nondisjunction of trisomy 21

Sherman

Freeman

Allen

et al. 2005

Cytogenet Genome Res

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“…Data analysis is in progress on the 907 cases (infants with DS) and 977 controls (infants without DS) enrolled in the NDSP. Based on results from the NDSP (Table 1) and other population-based series [e.g., Mikkelsen et al, 1995;Gomez et al, 2000], over 90% of nondisjunction errors leading to trisomy 21 occur in the oocyte and the majority of those occur during MI. Because of space limitations, we will only review maternal nondisjunction errors as most work has been done in this area.…”

Section: Chromosome 21 Nondisjunction In Oocytes: a Major Cause Of Dsmentioning

confidence: 99%

Epidemiology of Down syndrome

Sherman

Allen

Bean

et al. 2007

Ment. Retard. Dev. Disabil. Res. Rev.

392

265

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Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur in approximately 1 in 732 infants in the United States, although there is some evidence that variability in prevalence of estimates exist among racial/ethnic groups. Progress has been made in characterizing the specific types of chromosome errors that lead to DS and in identifying associated factors that increase the risk of chromosome 21 malsegregation, i.e., advanced maternal age and recombination. Studies to examine the variability of the presence of specific DS-associated birth defects and medical conditions provide evidence for genetic and environmental modifiers. Here, we provide a brief survey of studies that address the current state of the field and suggest gaps in research that can soon be filled with new multidisciplinary approaches and technological advances.

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“…Antonarakis (1998) disclosed that, in 2.7% of trisomy 21 cases, nondisjunction takes place in the first paternal meiotic division and in 4.3% in the second paternal meiotic division. Gomez et al (2000) revealed that, in the Spanish population, trisomy 21 by origin was 80% maternal (90.6% meiosis I, 6.2% meiosis II, 3.1% maternal mosaicism), in 5.6% paternal (50% meiosis I, 50% meiosis II), and in 5.6% mitotic. Muller et al (2000) in the French prenatal trisomy 21 study reported 102 informative cases of maternal origin of trisomy 21 in 89.2% and increased paternal origin in 10.8%.…”

mentioning

confidence: 98%

QF-PCR Examination of Parental and Meiotic Origin of Trisomy 21 in Central and Eastern Europe

Machatková

Brouckova

Matějčková

et al. 2005

J Histochem Cytochem.

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Study of parental/meiotic origin of free trisomy 21 in nuclear families from Russia (70 cases), Ukraine (32 cases), and 22 from Germany revealed maternal nondisjunction in 77.3% (Germany), 93.8% (Ukraine), and 91.4% (Russia), paternal origin in 13.6%, 6.2%, and 8.6%, respectively. Maternal meiosis I errors were found in 84.4% (Ukraine), 77.1% (Russia), paternal origin in 3.1% (Ukraine), 2.9% (Russia). Maternal meiosis II errors occurred in 9.4% and 14.3% and paternal in 3.1% and 5.7% in Ukraine and Russia, respectively. No significant differences were found in maternal/paternal origin among Ukraine, Russia, Germany, and published data from other European regions.

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Origin of trisomy 21 in Down syndrome cases from a Spanish population registry

Cited by 19 publications

References 11 publications

Risk factors for nondisjunction of trisomy 21

Risk factors for nondisjunction of trisomy 21

Epidemiology of Down syndrome

QF-PCR Examination of Parental and Meiotic Origin of Trisomy 21 in Central and Eastern Europe

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