Epidemiology of Down syndrome

Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora; Freeman, Sallie B.

doi:10.1002/mrdd.20157

Cited by 394 publications

(296 citation statements)

References 79 publications

Supporting

Mentioning

269

Contrasting

Unclassified

Order By: Relevance

“…Nearly 41 % of total maternally originated cases exhibited MII error and the ratio differs significantly (p=0.005) from the MI/MII ratio estimated for DS samples from the urban and semi-urban economically stable population as published in our previous report (Ghosh et al 2010; Table 2). This MI/MII ratio also differs significantly (p=0.02) from the published US data (MI/MII=74.7:25.3 %; Sherman et al 2007). All of the SES variables we measured show substantial differences between this Sundarban DS population and the urban DS samples from Kolkata and adjoining areas ( Table 1).…”

Section: Resultscontrasting

confidence: 81%

“…Failure of chiasma formation between homologous pair causes random chromosome movement towards the poles, leading to NDJ (Cheung et al 2007). For Ch21, absence of chiasma and subsequent nonrecombination have been identified as major risks for NDJ at the MI phase of maternal meiosis (Lamb et al 2005a, b;Sherman et al 2007;Oliver et al 2008;Ghosh et al 2009). In this regard, the results of the present study are absolutely new.…”

Section: Discussionmentioning

confidence: 99%

“…The overwhelming majority of this syndrome is caused by trisomy 21 genetic condition that originates with nondisjunction (NDJ), i.e., nonseparation of chromosome 21 (Ch21) either at parental gametogenesis (meiotic NDJ) or at an early phase of embryonic development (postzygotic NDJ). Previously, DS samples from several different ethnic populations have been studied and for all of them the meiosis I (MI) stage of oogenesis has been identified as the most vulnerable phase for NDJ errors to occur (Sherman et al 2007). Advanced maternal age at conception and altered patterns of recombination of the Ch21 are the two welldocumented maternal risk factors for Ch21 NDJ (Lamb et al 2005a, b;Sherman et al 2007;Oliver et al 2008;Ghosh et al 2009).…”

Section: Introductionmentioning

confidence: 99%

“…Previously, DS samples from several different ethnic populations have been studied and for all of them the meiosis I (MI) stage of oogenesis has been identified as the most vulnerable phase for NDJ errors to occur (Sherman et al 2007). Advanced maternal age at conception and altered patterns of recombination of the Ch21 are the two welldocumented maternal risk factors for Ch21 NDJ (Lamb et al 2005a, b;Sherman et al 2007;Oliver et al 2008;Ghosh et al 2009). In particular, absence of chiasma formation and a single telomeric chiasma have been identified as risk factors for maternal MI NDJ, whereas a pericentromeric single chiasma has been reported as risk for meiosis II (MII) errors.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Altered incidence of meiotic errors and Down syndrome birth under extreme low socioeconomic exposure in the Sundarban area of India

Ghosh

Dey

2013

J Community Genet

View full text Add to dashboard Cite

We conducted a survey to analyze the genetic epidemiology of trisomy 21 Down syndrome births in the Sundarban delta region of India. In this region, inhabitants are chiefly from marginalized poor tribal communities and have lived in extremely low socioeconomic condition for several generations. Microsatellite genotyping revealed an meiosis I/meiosis II ratio that is different from the previous reports on the Down syndrome populations from other parts of the world. Analyses of distribution of achiasmate nondisjunction at maternal meiosis I in interaction with different maternal age groups (young, middle, and old) revealed a very concordant pattern to that of urban and semi-urban Down syndrome cases previously studied by our group. However, the frequency of achiasmate meiosis is much lower, which suggests that extreme low socioeconomic exposure imparts risk of chromosomal nondisjunction even when the maternal chromosomes 21 engage in proper chiasma formation at prophase I of oogenesis.

show abstract

Section: Resultscontrasting

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Altered incidence of meiotic errors and Down syndrome birth under extreme low socioeconomic exposure in the Sundarban area of India

Ghosh

Dey

2013

J Community Genet

View full text Add to dashboard Cite

show abstract

“…DS can be caused by 3 types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism 1 . Important factors in the conception of trisomies are: delayed fertilization, advanced maternal age, increased satellite association; physical, biological & chemical mutagens have also been found to cause NDJ 2 .…”

Section: Introductionmentioning

confidence: 99%

STUDY OF EFFECT OF ADVANCED MATERNAL AGE RELATED RISKS FOR DOWN SYNDROME & OTHER TRISOMIES.

Desai¹,

Pandya²,

Mevada³

et al. 2013

Int J of Biomed & Adv Res

View full text Add to dashboard Cite

ABSTRACT

Back ground: Down syndrome is the most frequent live born aneuploidy & recognizable form of mental retardation among all the ethnic groups of human population across the globe. The most common risk factor for DS is advanced maternal age. The aim of this study was to find out risks of advanced maternal age for chromosomal abnormalities.

Materials & methods: The chromosomal abnormalities were diagnosed by cytogenetic study of 30 clinically diagnosed cases of DS attending paediatric outpatient department(OPD) & admitted in paediatric ward, Civil Hospital, Ahmedabad, as well as cases from B.M. Institute of Mental Health, Aashram Road, Ahmedabad. Their detailed history was taken.

Results: The study revealed that with advanced maternal age the risk of child birth having DS was increased. After age of 35 years the risk of child birth with DS was increased by 43.4% in our study.

Conclusion: As a woman gets older, her risk to have a pregnancy with a chromosome abnormality increases. The most commonly used definition for advanced maternal age is 35 years or more at time of child birth. With advanced maternal age hormonal level, numbers of healthy oocyte for fertilization, telomere length decreases with reduced meiotic recombination. All these factors increases the risk of pregnancy with DS.

show abstract

Aquaporin-4 Antibodies in Neuromyelitis Optica and Longitudinally Extensive Transverse Myelitis

Waters¹,

Jarius²,

Littleton³

et al. 2008

Arch Neurol

270

263

View full text Add to dashboard Cite

Background: There is increasing recognition of antibodymediated immunotherapy-responsive neurologic diseases and a need for appropriate immunoassays. Objectives: To develop a clinically applicable quantitative assay to detect the presence of aquaporin-4 (AQP4) antibodies in patients with neuromyelitis optica and to characterize the anti-AQP4 antibodies. Design: We compared a simple new quantitative fluorescence immunoprecipitation assay (FIPA) with both indirect immunofluorescence and an AQP4-transfected cell-based assay, both previously described. We used the cell-based assay to characterize the antibodies for their immunoglobulin class, IgG subclass, and ability to induce complement C3b deposition in vitro. Setting: United Kingdom and Germany. Participants: Serum samples from patients with neuromyelitis optica (n=25) or longitudinally extensive transverse myelitis (n=11) and from relevant controls (n=78) were studied. Main Outcome Measures: Comparison of different assays for AQP4 antibodies and characterization of anti-AQP4 antibodies in patients with neuromyelitis optica. Results: We found antibodies to AQP4 in 19 of 25 patients with neuromyelitis optica (76%) using FIPA, in 20 of 25 patients with neuromyelitis optica (80%) using the cell-based assay, and in 6 of 11 patients with longitudinally extensive transverse myelitis (55%) with both assays; these assays were more sensitive than indirect immunofluorescence and 100% specific. The antibodies bound to extracellular epitope(s) of AQP4, were predominantly IgG1, and strongly induced C3b deposition. Conclusions: Aquaporin-4 is a major antigen in neuromyelitis optica, and antibodies can be detected in more than 75% of patients. Further studies on larger samples will show whether this novel FIPA is suitable for clinical use. The IgG1 antibodies bind to AQP4 on the cell surface and can initiate complement deposition. These approaches will be useful for investigation of other antibody-mediated diseases.

show abstract

Epidemiology of Down syndrome

Cited by 394 publications

References 79 publications

Altered incidence of meiotic errors and Down syndrome birth under extreme low socioeconomic exposure in the Sundarban area of India

Altered incidence of meiotic errors and Down syndrome birth under extreme low socioeconomic exposure in the Sundarban area of India

STUDY OF EFFECT OF ADVANCED MATERNAL AGE RELATED RISKS FOR DOWN SYNDROME & OTHER TRISOMIES.

Aquaporin-4 Antibodies in Neuromyelitis Optica and Longitudinally Extensive Transverse Myelitis

Contact Info

Product

Resources

About