Terminal deletion of chromosome 15q26.1: Case report and brief literature review

Roback E.W., Barakat A.J., Dev V.G., Mbikay M., Chretien M., Butler M.G., An infant with deletion of the distal long arm of chromosome 15 (q26.1 → qter) and loss of insuline-like growth factor I receptor gene, Am. J. Med. Genet., 38, pp. 74-79, (1991)

Tonnies H., Schulze I., Hennies H.C., Neumann L.M., Keitzer R., Neitzel H., De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes, J. Med. Genet., 38, pp. 617-621, (2001)

Siebler T., Lopaczynski W., Terry C.L., Et al., Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15, J. Clin. Endocrinol. Metab., 80, pp. 3447-3457, (1995)

Okubo Y., Siddle K., Firth H., Et al., Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type I insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene, J. Clin. Endocrinol. Metab., 88, pp. 5981-5988, (2003)

Biggio J.R., Descartes M.D., Carroll A.J., Holt R.L., Congenital diaphragmatic hernia: Is 15q26.1-26.2 a candidate locus?, Am. J. Med. Genet., 126 A, pp. 183-185, (2004)

Butler M.G., Fogo A.B., Fuchs D.A., Collins F.S., Dev V.G., Phillips J.A., Brief clinical report and review: Two patients with ring chromosome 15 syndrome, Am. J. Med. Genet., 29, pp. 149-154, (1988)

Mathew S., Murty V.V.V.S., German J., Chaganti R.S.K., Confirmation of 15q26.1 as the site of the FES protooncogene by fluorescence in situ hybridization, Cytogenet. Cell Genet., 63, pp. 33-34, (1993)

German J., Roe A.M., Leppert M.F., Ellis N.A., Bloom Syndrome: An analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1, Proc. Natl. Acad. Sci., 91, pp. 6669-6673, (1994)

Oh I.U., Inazawa J., Kim Y.O., Song B.J., Huh T.L., Assignment of the human mitochondrial NADP⁺-specific isocitrate dehydrogenase (IDH2) gene to 15q26.1 by in situ hybridization, Genomics, 38, pp. 104-106, (1996)

Eyre S., Roby P., Wolstencroft K., Et al., Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: Exclusion of aggrecan as a candidate gene, J. Med. Genet., 39, pp. 634-638, (2002)

Roback E.W., Barakat A.J., Dev V.G., Mbikay M., Chretien M., Butler M.G., An infant with deletion of the distal long arm of chromosome 15 (q26.1 → qter) and loss of insuline-like growth factor I receptor gene, Am. J. Med. Genet., 38, pp. 74-79, (1991)

Tonnies H., Schulze I., Hennies H.C., Neumann L.M., Keitzer R., Neitzel H., De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes, J. Med. Genet., 38, pp. 617-621, (2001)

Siebler T., Lopaczynski W., Terry C.L., Et al., Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15, J. Clin. Endocrinol. Metab., 80, pp. 3447-3457, (1995)

Okubo Y., Siddle K., Firth H., Et al., Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type I insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene, J. Clin. Endocrinol. Metab., 88, pp. 5981-5988, (2003)

Biggio J.R., Descartes M.D., Carroll A.J., Holt R.L., Congenital diaphragmatic hernia: Is 15q26.1-26.2 a candidate locus?, Am. J. Med. Genet., 126 A, pp. 183-185, (2004)

Butler M.G., Fogo A.B., Fuchs D.A., Collins F.S., Dev V.G., Phillips J.A., Brief clinical report and review: Two patients with ring chromosome 15 syndrome, Am. J. Med. Genet., 29, pp. 149-154, (1988)

Mathew S., Murty V.V.V.S., German J., Chaganti R.S.K., Confirmation of 15q26.1 as the site of the FES protooncogene by fluorescence in situ hybridization, Cytogenet. Cell Genet., 63, pp. 33-34, (1993)

German J., Roe A.M., Leppert M.F., Ellis N.A., Bloom Syndrome: An analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1, Proc. Natl. Acad. Sci., 91, pp. 6669-6673, (1994)

Oh I.U., Inazawa J., Kim Y.O., Song B.J., Huh T.L., Assignment of the human mitochondrial NADP⁺-specific isocitrate dehydrogenase (IDH2) gene to 15q26.1 by in situ hybridization, Genomics, 38, pp. 104-106, (1996)

Eyre S., Roby P., Wolstencroft K., Et al., Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: Exclusion of aggrecan as a candidate gene, J. Med. Genet., 39, pp. 634-638, (2002)