A chromosomal deletion map of human malformations

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

Research output: Contribution to journalArticlepeer-review


Malformations are common causes of pediatric morbidity and mortality, and genetic factors are a significant component of their etiology. Autosomal deletions, in almost all cases, cause a nonspecific embryopathy that presents after birth as growth failure, mental retardation, and multiple malformations. We have constructed a chromosome map of autosomal deletions associated with 47 different congenital malformations, using detailed clinical and cytogenetic information on 1,753 patients with nonmosaic single contiguous autosomal deletions. The 1,753 deletions involved 258 (89%) of 289 possible autosomal bands (by the use of ISCN 400-band nomenclature), giving a total of 4,190 deleted autosomal bands for analysis. We compared the band distributions of deletions associated with common major malformations with the distribution of all 1,753 deletions. We noted 283 positive associations between deleted bands and specific malformations, of which 199 were significant (P.001) and 84 were highly significant (P
Original languageEnglish
Pages (from-to)1153-9
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number4
Publication statusPublished - Oct 1998


  • Chromosome Aberrations
  • Chromosome Disorders
  • Chromosome Mapping
  • Female
  • Haplotypes
  • Humans
  • Infant, Newborn
  • Male
  • Ploidies
  • Sequence Deletion
  • Statistics, Nonparametric


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