Interstitial Deletion of the Proximal lomg Arm of Chromosome 4, del(4)(q12q21), in a Boy with Multiple Congenital Abnormalities Included Eye

Abstract

Abstract: : Purpose: To describe precise ophthalmic findings of a case with a deletion of the proximal long arm of chromosome 4 with optic disc coloboma, microphthalmos, and cataract in addition to previously reported clinical findings. Method: A case of 16-year-old Japanese boy is presented. Chromosome analysis disclosed a interstitial proximal deletion (4)(q12q21). Clinical manifestations were short statute, growth- hormon hyposecretion, inguinal hernia, mental retardation, optic disc coloboma, microphthalmos, and cataract. We have reviewed the previously reported findings of 9 cases associated with interstitial deletion(4)(q12q21). Results: Deletion of the distal region of the long arm of chromosome 4 are well documented, whereas that of the proximal region are rare. Out of 9 cases with interstitial proximal deletion (4)(q12q21), detailed opthalmic reports have not been stated. Our clinical findings of optic disc coloboma and microphthalmos coincide with those reported by Curtis(1990). Conclusion: Optic disc coloboma and microphthalmos can be regarded as pathognomonic ophthalmic findings of a chromosome deletion in this region.

Keywords: 420 genetics • 418 gene mapping • 498 optic disc