Article
Pure proximal deletion of chromosome 21 and kyphosis.
European journal of medical genetics - 1 Jan 2000
Keren Boris, Bernardin Céline, Toutain Annick, Heron Delphine, Fouquet Bernard, Laudier Béatrice, Telvi Louise, Romana Serge Pierrick, Vekemans Michel, Sanlaville Damien
Abstract excerpt
We report on two unrelated patients with a proximal deletion of the long arm of chromosome 21. The deletion encompassed 14.5Mb of DNA. Molecular studies showed that the two telomeric breakpoints were within the same DNA clone (BAC RP11-56D12). The centromeric breakpoints, however, were separated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.