Article
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
American journal of human genetics - 1 May 1993
Kline A D, White M E, Wapner R, Rojas K, Biesecker L G, Kamholz J, Zackai E H, Muenke M, Scott C I, Overhauser J
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.