Contiguous deletion syndromes.
In the past few years, clinical, cytogenetic and molecular analysis of patients with complex phenotypes has led to the identification of syndromes caused by deletions of adjacent disease genes on a chromosome. These conditions, referred to as contiguous deletion syndromes, are an important component of the syndromes recognized in medical genetics, and the DNA from patients affected by these disorders is useful for the mapping and cloning of disease genes.
Ballabio
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Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas.
D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D006801:Humans; D010641:Phenotype; D013577:Syndrome; D014960:X Chromosome / Q000648:ultrastructure