IGF1R (15q26) / 15q11 probe hybridized to patient material showing a deletion of the IGF1R gene region at 15q26 (1R2G).
Congenital diaphragmatic hernia (CDH) is a severe, life-threatening, congenital anomaly characterized by variable defect in the diaphragm, pulmonary hypoplasia, and postnatal pulmonary hypertension. Deletion of the IGF1R (insulin-like growth factor 1 receptor) gene region at 15q25 is the most frequent anomaly found in CDH. The type 1 IGF receptor at 15q26 is required for normal embryonic and postnatal growth. Deletions, but also gain of an approximately 5 Mb region including the IGF1R gene has been found to have a profound effect on prenatal and early postnatal growth. The IGF1R (15q26) specific FISH probe is optimized to detect copy numbers of the IGF1R gene region at region 15q26. The 15q11 (SNRPN/UBE3A) specific region probe is included to facilitate chromosome identification.
References: Faivre et al, 2002, Eur, J, Hum, Genet., 10; 699-706. Okubo et al, 2003, J. Clin. Endocrinol. Metab, 88; 5981-5988.