Open AccessAn infant with deletion of the distal long arm of chromosome 15 (q26.1→qter) and loss of insulin‐like growth factor 1 receptor gene
Author(s) -
Roback Ellen W.,
Barakat Amin J.,
Dev V. G.,
Mbikay Majambu,
Chrétien Michel,
Butler Merlin G.
Publication year - 1991
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/ajmg.1320380117
Subject(s) - microcephaly , insulin like growth factor 1 receptor , biology , insulin like growth factor , chromosome 15 , failure to thrive , hypoplasia , genetics , insulin like growth factor 2 , chromosome , endocrinology , medicine , gene , growth factor , receptor , anatomy
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 arched palate, renal abnormalities, lung hypoplasia, failure to thrive, and developmental delay/mental retardation. Several genes have been assigned to the 15q25→qter region, including insulin‐like growth factor 1 receptor (IGF1R). DNA analysis from our patient documented the loss of one IGF1R gene copy. Our study further localizes the IGF1R gene distal to the 15q26.1 band. It is interesting to speculate that the severe IUGR and postnatal growth deficiency of our patient and other patients with similar chromosome 15 deletions are related to the loss of an IGF1R gene copy which may lead to an abnormal number and/or structure of the receptors.