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

• Published in: American journal of medical genetics Vol. 38; no. 1; p. 74
• Main Authors: Roback, E W, Barakat, A J, Dev, V G, Mbikay, M, Chrétien, M, Butler, M G
• Format: Journal Article
• Language: English
• Published: United States 01-01-1991
• Subjects: Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 15 - ultrastructure; DNA - analysis; Female; Fetal Growth Retardation - complications; Fetal Growth Retardation - genetics; Humans; Infant; Male; Pedigree; Receptors, Cell Surface - genetics; Receptors, Somatomedin
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320380117

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.