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Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents

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Abstract

We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed.

참고문헌 (12)

  1. "Prenatal detection of an unstable ring 21 chromosome", pp.310~3
  2. "Clinical Atlas of Human Chromosomes" (1984), John Wiley and Sons
  3. "Further characterization of 19 cases of rea and delineation as isochromosomes or Robertsonian translocations in Down syndrome", pp.1218~22
  4. "Ring chromosome 21 transmitted from mother to daughter Its stability in a lymphoblastoid cell line", pp.32~5
  5. "Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring", pp.310~4
  6. "A case of r with stigmata of atypical Down syndrome", pp.65~9
  7. "Ring chromosome 21 in phenotypically apparently normal persons Report of two families from Switzerland and Italy", pp.323~9
  8. "Molecular and clinical definition of the lesion", pp.22~8
  9. "Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21", pp.15~28
  10. "Molecular mechanisms in the formation of a human ring chromosome 21" (1914)
  11. "Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother implication for ring chromosome formation", 110, pp.332~7 (2002)
  12. "Molecular mechanisms for constitutional chromosomal rearrangements in humans", 34, pp.297~329 (2000)

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