scholarly journals Etiology of Down Syndrome: Risk of Advanced Maternal Age and Altered Meiotic Recombination for Chromosome 21 Nondisjunction

10.5772/18333 ◽  
2011 ◽  
Author(s):  
Subrata Kumar ◽  
Sujoy Ghosh
Keyword(s):  
Down Syndrome ◽  
Meiotic Recombination ◽  
Maternal Age ◽  
Advanced Maternal Age ◽  
Chromosome 21 ◽  
Down Syndrome Risk

scholarly journals What Causes Down Syndrome?

2021 ◽  
Author(s):  
Emine Ikbal Atli
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Extra Chromosome ◽  
Advanced Maternal Age ◽  
Chromosome 21 ◽  
Human Phenotype ◽  
Meiosis I ◽  
Dosage Imbalance

Trisomy 21 (Down Syndrome) is the model human phenotype for all genome gain-dosage imbalance situations, including microduplications. Years after the sequencing of chromosome 21, the discovery of functional genomics and the creation of multiple cellular and mouse models provided an unprecedented opportunity to demonstrate the molecular consequences of genome dosage imbalance. It was stated years ago that Down syndrome, caused by meiotic separation of chromosome 21 in humans, is associated with advanced maternal age, but defining and understanding other risk factors is insufficient. Commonly referred to as Down syndrome (DS) in humans, trisomy 21 is the most cited genetic cause of mental retardation. In about 95% of cases, the extra chromosome occurs as a result of meiotic non- nondisjunction (NDJ) or abnormal separation of chromosomes. In most of these cases the error occurs during maternal oogenesis, especially in meiosis I.

New estimates of down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population

1995 ◽  
Vol 15 (5) ◽  
pp. 455-465 ◽  
Author(s):  
Jane L. Halliday ◽  
Lyndsey F. Watson ◽  
Judith Lumley ◽  
David M. Danks ◽  
Leslie J. Sheffield
Keyword(s):  
Down Syndrome ◽  
Maternal Age ◽  
Chorionic Villus ◽  
Advanced Maternal Age ◽  
Chorionic Villus Sampling

448 Cost analysis of down syndrome screening in the advanced maternal age population

2001 ◽  
Vol 185 (6) ◽  
pp. S205
Author(s):  
Janice Hartnett ◽  
Adam Borgida ◽  
Peter Benn ◽  
Michael Barsoom ◽  
Michael Deroche ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Cost Analysis ◽  
Maternal Age ◽  
Advanced Maternal Age ◽  
Down Syndrome Screening

scholarly journals Down Syndrome Survey in South Indian Population- Understanding Inheritance, Perceptions, Interventions and Diagnosis

2021 ◽  
Vol 21 (04) ◽  
Author(s):  
Disha Sawhney
Keyword(s):  
Down Syndrome ◽  
Genetic Counseling ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Indian Population ◽  
Advanced Maternal Age ◽  
South Indian Population ◽  
Adhd Symptoms ◽  
Hyperactivity Disorder ◽  
South Indian

ABSTRACT Down syndrome (DS) has been prevalent worldwide, for centuries now. Despite the fact that tremendous research has been done on DS ever since the early 1950s, most results obtained, are on the basis of etiological and demographic factors and predominantly of the western data. Every year in India, >30,000 children are born with DS. This survey has been done keeping the Indian population in mind and to analyze the outlook of parents having children with DS, understand the comorbidities and their management. The study was conceptualized to create an exhaustive and comprehensive questionnaire to study the pattern of inheritance of Trisomy 21, analyze influence and correlation of advanced maternal age, sex ratio, order of birth, hypothyroidism, common comorbidities, abortions, Attention deficit hyperactivity disorder (ADHD) and sleeping difficulties in individuals diagnosed with DS. 50 family triads were interviewed. The results showed that incidence of DS was more in males compared to females. The analysis revealed that mean maternal age of 25-28 years showed increased incidence of DS. 2.5 percent showed severe ID and 27.5 percent had severe ADHD symptoms, while 10-13 percent showed mild to moderate ADHD. The most and least prevalent comorbidity seen was the presence of heart disease (45%) and hearing impairment (10 percent) respectively. It was found that about 40 percent of parents strongly agreed to the idea that Genetic Counseling (GC) is helpful and wanted to reinforce it to others who find it difficult to cope up with their DS child.

Association of RFC1 A80G gene polymorphism with advanced maternal age in risk of Down syndrome

2017 ◽  
Vol 7 (1) ◽  
pp. 6-10 ◽  
Author(s):  
Raviraj V. Suresh ◽  
Narayannapa ◽  
Savitha ◽  
Ambika S. Udupa ◽  
Kusuma Lingaiah ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Gene Polymorphism ◽  
Maternal Age ◽  
Advanced Maternal Age

Maternal and Birth Characteristics and Risk of Leukemia in Children with Down Syndrome.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 861-861
Author(s):  
Michelle A. Roesler ◽  
Cindy K. Blair ◽  
Logan G. Spector ◽  
Leslie L. Robison ◽  
Andrew F. Olshan ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Birth Weight ◽  
Acute Leukemia ◽  
Maternal Age ◽  
Childhood Leukemia ◽  
Advanced Maternal Age ◽  
Children With Down Syndrome ◽  
Increased Risk ◽  
Birth Characteristics ◽  
Leukemia In Children

Abstract High birth weight (> 4000 g) is a risk factor for childhood leukemia, especially for younger children. Advanced maternal age has also been associated with an increased risk, though less consistently than birth weight. Because children with Down syndrome (DS) are at a 20-fold increased risk of developing acute leukemia than the general population, we evaluated maternal and child birth characteristics that may be associated with leukemia in children with DS. A case-control study of DS and acute leukemia was conducted through the Children’s Oncology Group in North America. From 1997 to 2002, 158 children ages birth-18 years with DS and acute leukemia (including 61 acute myeloid leukemia (AML) and 97 acute lymphoblastic leukemia (ALL)) were enrolled. Children with DS alone (n= 173) were identified through the cases’ pediatric clinics and frequency matched to cases on age. Mothers of cases and controls completed a telephone interview that included questions regarding maternal and birth characteristics. Here, we present data related to singleton pregnancies (165 controls and 151 cases (96 ALL/55AML)). Advanced maternal age (≥ 35 vs. <35) was associated with an elevated risk of leukemia (Odds Ratio (OR)=1.79, 95% Confidence Interval (CI))=1.09–2.94), which was apparent for both ALL and AML. There was also a suggestion of an increased risk for children in the highest tertile (>3260 g) of birth weight (OR=1.56, 95% CI=0.87–2.78) compared to children in the reference group (2850–3260 g). Birth length ≥ 21 inches showed an increased risk for AML cases only (OR=3.06; CI=1.25–7.50). In contrast, increasing birth order was associated with a decreased risk, particularly for AML (OR=0.36; 95% CI 0.14–0.97). This is the first study to evaluate maternal and child birth characteristics in relation to leukemia risk in children with DS. Our results add to the growiA. ng body of evidence that suggests that newborn body size may be related to the underlying etiology of childhood leukemia.

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