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Phenotypic heterogeneity and parental origin of extra chromosome 21 in Down syndrome

Mamta Muranjan1, Tejasvi Chaudhari, Babu Rao Vundinti

  • 1Department of Pediatrics, Genetic Clinic, KEM Hospital, Parel, Mumbai, India. muranjanmamta@rediffmail.com

Indian Pediatrics
|August 13, 2009
PubMed

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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
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