Molecular analysis of the nondisjoined chromosome in trisomy 21 with and without endocardial cushion defects

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133791

Zittergruen, M M; Murray, J C; Lauer, R M ^[1]

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1. Univ. of Iowa, Iowa City, IA (United States); and others

Congenital heart disease is found in approximately 40% of patients with Down syndrome (DS), with endocardial cushion defects (ECDs) comprising one-third of the defects. Sixteen highly polymorphic microsatellite markers were typed in two groups (Group 1: DS with ECD, n=43, and Group 2: DS without ECD, n=52) to determine: (1) the parental origin of the extra chromosome, (2) the presence or absence of disomic homozygosity (reduced) or heterozygosity (nonreduced) of the markers along 21q, and (3) the presence or absence of recombination in the nondisjoined chromosome. The association of these three factors with the presence of ECD in DS was then determined. The origin of the nondisjoined chromosome was maternal in 86.3% of the total cases with no significant differences between groups 1 and 2. The most centromeric marker was nonreduced in 77% of the maternally-derived trisomies (indicative of a meiosis II nondisjunction) with no significant differences between groups 1 and 2. The most telomeric markers showed no differences in the number of reduced or nonreduced markers between maternally and paternally derived chromosomes or between groups 1 and 2. Recombination was significantly decreased in group 1 (28%) compared to group 2 (56%) (chi-square 7.45, p < 0.01) with similar values for both paternally and maternally-derived trisomies. Overall, recombination was present in 43.2% of the nondisjoined chromosomes which is similar to the 42.3% recombination reported in nondisjoined chromosomes in trisomy 21.

• OSTI ID: 133791
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CARDIOVASCULAR DISEASES
CENTROMERES
CHROMOSOMAL ABERRATIONS
DOWNS SYNDROME
GENE RECOMBINATION
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 21
NON-DISJUNCTION
PATIENTS
STATISTICS
TELOMERES