Journal article
Molecular Analysis of Nondisjunction in Down Syndrome Patients With and Without Atrioventricular Septal Defects
Circulation (New York, N.Y.), Vol.92(10), pp.2803-2810
11/15/1995
DOI: 10.1161/01.CIR.92.10.2803
PMID: 7586245
Abstract
Background: Congenital heart disease is common in Down syndrome patients, with atrioventricular septal defects accounting for a majority of the abnormalities. The molecular mechanisms of meiotic nondisjunction resulting in Down syndrome were studied for associations with the presence of atrioventricular septal defects.
Methods and results: Twenty highly polymorphic chromosome 21 microsatellite markers were used to genotype two groups of patients (group 1: Down syndrome with atrioventricular septal defects, n = 43; and group 2: Down syndrome without cardiac defects, n = 51) to determine (1) the parental origin of the extra chromosome, (2) the stage of meiotic nondisjunction resulting in the trisomy, (3) the presence or absence of disomic homozygosity or heterozygosity, and (4) the degree of recombination in the nondisjoined chromosomes. The parental origin of the nondisjoined chromosome was maternal in 86.2% of the families, with no significant differences between groups. The most centromeric marker was nonreduced, indicating a meiosis I nondisjunction in 76.5% of maternally derived trisomies, and reduced, indicating a meiosis II nondisjunction in 76.9% of paternally derived trisomies, with no significant differences between groups. There were no significant differences in the proportion of reduced markers at any locus between groups. The distribution of the number of crossovers was significantly different between groups (chi 2 = 14.12, P < .001), with less recombination observed in group 1.
Conclusions: In Down syndrome patients, no association was found between the presence of an atrioventricular septal defect and the parent of origin, stage of meiotic nondisjunction, or disomic homozygosity or heterozygosity. A significant association was found between the presence of an atrioventricular septal defect and reduced frequency of recombination.
Details
- Title: Subtitle
- Molecular Analysis of Nondisjunction in Down Syndrome Patients With and Without Atrioventricular Septal Defects
- Creators
- Mark M Zittergruen - From the Departments of Pediatrics and Preventive Medicine, University of Iowa Hospitals and Clinics, Iowa CityJeffrey C Murray - From the Departments of Pediatrics and Preventive Medicine, University of Iowa Hospitals and Clinics, Iowa CityRonald M Lauer - From the Departments of Pediatrics and Preventive Medicine, University of Iowa Hospitals and Clinics, Iowa CityTrudy L Burns - From the Departments of Pediatrics and Preventive Medicine, University of Iowa Hospitals and Clinics, Iowa CityVal C Sheffield - From the Departments of Pediatrics and Preventive Medicine, University of Iowa Hospitals and Clinics, Iowa City
- Resource Type
- Journal article
- Publication Details
- Circulation (New York, N.Y.), Vol.92(10), pp.2803-2810
- DOI
- 10.1161/01.CIR.92.10.2803
- PMID
- 7586245
- NLM abbreviation
- Circulation
- ISSN
- 0009-7322
- eISSN
- 1524-4539
- Publisher
- Lippincott Williams & Wilkins
- Language
- English
- Date published
- 11/15/1995
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Medical Genetics and Genomics; Pediatric Dentistry; Craniofacial Anomalies Research Center; Fraternal Order of Eagles Diabetes Research Center; Dental Research; Ophthalmology and Visual Sciences
- Record Identifier
- 9984025666302771
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