Trisomy 21 down syndrome. II: Structural chromosome rearrangements in the parents

In a series of 374 families with Down syndrome progeny, structural chromosome rearrangements were detected in the parents of six children with regular trisomy. The aberrations were reciprocal translocations and inversions. In all three informative families, the parent who transmitted the extra chrom...

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Bibliographic Details
Published in:Human genetics 1986-02, Vol.72 (2), p.118-122
Main Authors: UCHIDA, I. A, FREEMAN, V. C. P
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chromosome Aberrations
Chromosome Banding
Down Syndrome - genetics
Female
Humans
Karyotyping
Male
Medical genetics
Medical sciences
Parents
Pedigree
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Summary:In a series of 374 families with Down syndrome progeny, structural chromosome rearrangements were detected in the parents of six children with regular trisomy. The aberrations were reciprocal translocations and inversions. In all three informative families, the parent who transmitted the extra chromosome was not the one with the structural rearrangement. Among the three non-informative families there was one in which both parents carried different reciprocal translocations. In two other families a chromosome aberration was detected: a triple X mother and a father with a Philadelphia chromosome. Omitting the four parents with possible biased ascertainment, 0.4% had a chromosome rearrangement. When the parents with constitutional chromosome aberrations and those with mosaicism, described previously, are combined, the frequency of chromosomally abnormal parents lies between 1.9% and 3.2%. When correlated with parental transmission of the extra chromosome, mosaicism rather than structural rearrangements appears to be of etiologic significance.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00283928