A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality-and tolerance of segmental aneuploidy-in humans

C Brewer, S Holloway, P Zawalnyski, A Schinzel, D FitzPatrick

Research output: Contribution to journalArticlepeer-review

Abstract

The distribution of simple autosomal duplications associated with congenital malformations has been analyzed by means of data contained in the Human Cytogenetics Database. For each of the 47 malformations, the frequency of duplication of a given chromosome band associated with the malformation was compared with the overall frequency of duplication of that band recorded in the database. In total, there were 143 malformation-associated chromosomal regions (MACR); 21 of these contained at least one band with a highly significant (P
Original languageEnglish
Pages (from-to)1702-8
Number of pages7
JournalAmerican Journal of Human Genetics
Volume64
Issue number6
DOIs
Publication statusPublished - Jun 1999

Keywords

  • Chromosome Aberrations
  • Chromosome Mapping
  • Congenital Abnormalities
  • Genes, Lethal
  • Humans

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