Parental origin of the extra chromosome in Down's syndrome
- 1 January 1977
- journal article
- research article
- Published by Springer Science and Business Media LLC in Human Genetics
- Vol. 37 (1), 7-16
- https://doi.org/10.1007/bf00293766
Abstract
Chromosome 21 fluorescent heteromorphisms were studied in 42 patients with Down's syndrome, their parents and their siblings. Included in this number are two instances of an aunt and niece affected with trisomy 21, and one of affected siblings. One case has a de novo 21/21 translocation. Blood group, red cell and serum protein markers were also studied for linkage, gene exclusions, associations, and paternity testing. Thirty-one of the trisomy 21 cases were informative for parental origin of the extra chromosome and for stage of meiosis. The non-disjunctional event was of maternal origin in 24; 23 occurred in meiosis I, 1 in meiosis II. Seven were of paternal origin; 5 in meiosis I, and 2 in meiosis II. The translocation case was of paternal origin. A literature search revealed a total of 98 cases informative for the parent of origin of the extra chromosome, of >347 families tested. In addition, 3 de novo translocation cases, of 7 tested, were informative. The data suggest that most cases result from an error in the first meiotic division in the mother, but that a significant proportion are paternal in origin.This publication has 31 references indexed in Scilit:
- Trisomy 21 in man due to maternal non-disjunction during the first meiotic divisionHereditas, 2009
- Increased frequency of heterozygotes for α1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21Nature, 1976
- ORIGIN OF EXTRA CHROMOSOME IN TRISOMY 21The Lancet, 1973
- ORIGIN OF THE TRISOMIC 21 CHROMOSOMEThe Lancet, 1973
- ORIGIN OF EXTRA CHROMOSOME IN TRISOMY 21The Lancet, 1973
- Distinction between extra G-like chromosomes by quinacrine mustard fluorescence analysisExperimental Cell Research, 1970
- Etiology of nondisjunction: lack of evidence for genetic controlCytogenetic and Genome Research, 1970
- MATERNAL RADIATION AND CHROMOSOMAL ABERRATIONSThe Lancet, 1968
- Virus Aetiology for Down's Syndrome (Mongolism)Nature, 1965
- Kalmuc Idiocy: Report of a Case with AutopsyJournal of Mental Science, 1876