Cytogenetic findings in patients with Down's syndrome
In order to describe the frequency of non classical forms of 21 trisomy in patients with Down's syndrome at the cytogenetic's laboratory of our institution (Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile) 201 chromosomal studies from peripheral blood lymphocytes...
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Published in | Revista Chilena de pediatría Vol. 61; no. 6; pp. 313 - 316 |
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Main Authors | , , |
Format | Journal Article |
Language | Spanish |
Published |
Chile
01.11.1990
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Subjects | |
Online Access | Get full text |
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Summary: | In order to describe the frequency of non classical forms of 21 trisomy in patients with Down's syndrome at the cytogenetic's laboratory of our institution (Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile) 201 chromosomal studies from peripheral blood lymphocytes of patients referred with a clinical diagnosis of Down's syndrome were analyzed. Among them 22 (11%) cases showed no chromosomal abnormalities, 161 (80%) had classic 21 trisomy, 7 (3.5%), showed 21 trisomy by translocation, 5 (2.5%) had 21 trisomy mosaicism, 6 (3%) showed 21 trisomy plus an autosomic balanced translocation. Male to female rate was 1.18:1 and diagnosis was done at the neonatal period in 26.8% of cases. Early recognition of the different kinds of chromosomal abnormalities in Down's syndrome is important if appropriate genetic council is the goal. |
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Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 |
ISSN: | 0370-4106 |