The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.

Abstract excerpt

Patients with interstitial deletions of the long arm of chromosome 13 may have widely varying phenotypes. From cytogenetic analysis, we have postulated that there is a discrete region in 13q32 where deletion leads to a syndrome of severe malformations, including digital and brain anomalies. To test this hypothesis at the molecular level, we have studied the deletions in 17 patients; 5 had severe malformations,...

Topics

• Abnormalities, Multiple
• Chromosome Aberrations
• Chromosome Disorders
• Chromosome Mapping
• Chromosomes, Human, Pair 13
• DNA Probes
• Gene Deletion
• Humans
• Phenotype
• Polymerase Chain Reaction
• Syndrome