Molecular analysis of the 18q- syndrome - and correlation with phenotype

Antonie D. Kline, Mary Ellen White, Ronald Wapner, Katherine Rojas, Leslie G. Biesecker, John Kamholz, Elaine H. Zackai, Maximilian Muenke, Charles I. Scott, Joan Overhauser

Research output: Contribution to journalArticlepeer-review

90 Scopus citations


Seven individuals with deletions of the distal long arm of chromosome 18 were evaluated at the clinical, cytogenetic, and molecular levels. The patients had varying degrees of typical clinical findings associated with the 18q- syndrome. Cytogenetic analysis revealed deletions from 18q21.3 or 18q22.2 to qter. Somatic cell hybrids derived from the patients were molecularly characterized using ordered groups of probes isolated from a chromosome 18-specific library. In general, the size of the deletion could be correlated with the severity of the phenotype. Based on the clinical pictures of these seven patients, a preliminary phenotypic map for the clinical features associated with deletions of the distal portion of the long arm has been generated. Furthermore, genes previously localized to 18q21 were mapped relative to the chromosome breakpoints present in these patients.

Original languageEnglish (US)
Pages (from-to)895-906
Number of pages12
JournalAmerican journal of human genetics
Issue number5
StatePublished - May 1993
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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