An infant with deletion of the distal long arm of chromosome 15 (q26.1→qter) and loss of insulin‐like growth factor 1 receptor gene

Abstract excerpt

We report on an infant with a previously undescribed chromosome 15 deletion (q26.1----qter) and compare the clinical findings with those of 7 reported patients with deletions of distal 15q, as well as ring chromosome 15 syndrome patients. Most of the patients with deletions of distal 15q, including our patient, have intrauterine growth retardation (IUGR), microcephaly, abnormal face and ears, micrognathia, highly...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cholangiocarcinoma and Gallbladder Cancer Studies
• Share to Genomic variations and chromosomal abnormalities
• Share to RNA modifications and cancer