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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Bibliographic Details
Published inRevista Chilena de pediatría Vol. 61; no. 6; pp. 313 - 316
Main Authors Cortés, F, Alliende, M, Curotto, B
Format Journal Article
LanguageSpanish
Published Chile 01.11.1990
Subjects
Child, Preschool
Chromosomes, Human, Pair 21
Down Syndrome - blood
Down Syndrome - genetics
Female
Genetic Counseling
Humans
Infant
Infant, Newborn
Male
Mosaicism
Retrospective Studies
Translocation, Genetic
Trisomy - genetics
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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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ISSN:0370-4106