Bends in human mitotic metaphase chromosomes revisited: 15q11-13 is the most frequent non-random autosomal bend in blood cultures

A. Plaja, R. Miró, C. Fuster, C. Perez, E. Sarret, P. Esteve, J. Egozcue

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3 Citations (Scopus)

Abstract

We have investigated the preferential bending of some chromosome sites in blood cultures from normal and chromosomally abnormal subjects. A total of 2,262 centromeric and 2,718 non-centromeric bends were recorded, and 69 non-centromeric sites were found not to bend at random. 15q11-13 bending was found to be the most frequent non-random autosomal bend. Bends on chromosomes may be remnants of a folded chromosome state in the nucleus, and may facilitate the preferential involvement of some chromosomal bands in structural reorganizations such as the isoacentric fragments, or contribute to the high frequency of interstitial deletions and isodicentric inversion duplications involving the 15q11-13 region. © 2001 Wiley-Liss, Inc.
Original languageEnglish
Pages (from-to)106-113
JournalAmerican Journal of Medical Genetics
Volume101
Issue number2
DOIs
Publication statusPublished - 15 Jun 2001

Keywords

  • Chromosome bends
  • Deletion 15q11-13
  • Duplication 15q11-13
  • Inversion duplication
  • Isoacentric fragments
  • Neocentromere

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