Molecular cytogenetic characteristics of Down syndrome newborns

Aliza Amiel*, Galit Goldzak, Elena Gaber, Moshe D. Fejgin

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Down syndrome (DS) is a multifactorial disorder with a high predisposition to leukemia and other malignancies. A change in the replication pattern from synchronous in normal genes to asynchronous in DS amniocytes has previously been reported. The objective of this study was to evaluate additional molecular cytogenetic factors which could re-emphasize the high correlation between DS cells and genetic instability. We found a higher rate of random aneuploidy in chromosomes 9 and 18 and a higher rate of asynchronous replication in the subtelomeric region or DS leukocytes than in cells from normal newborns. In addition, the telomere capture phenomenon was observed in the DS leukocytes but not in normal controls. The molecular cytogenetic factors observed in the DS individuals are known to correlate with genomic instability and with predisposition to cancer.

Original languageEnglish
Pages (from-to)541-547
Number of pages7
JournalJournal of Human Genetics
Issue number6
StatePublished - Jun 2006


  • Down syndrome
  • Random aneuploidy
  • Replication pattern
  • Telomere capture


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