Congenital Bilateral Severe Microphthalmia with Mental Retardation and Cerebral Palsy: Chromosome Aberration, 46, XY, t (2;6)(q31;q24)
Author:
Affiliation:
1. Department of Pediatrics, National Hospital Organization Fukushima Hospital
2. Department of Pediatrics, Nippon Medical School
Publisher
Medical Association of Nippon Medical School
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/jnms/72/4/72_4_242/_pdf
Reference11 articles.
1. 1) Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. Am J Med Genet 2001; 98: 92-100.
2. 2) Graham CA, Redmond RM, Nevin NC. X-linked clinical anophthalmos: localization of the gene to Xq27-Xq28. Ophthal Paedriat genet 1991; 12: 43-48.
3. 3) Bessant DA, Khaliq S, Hameed A, Anwar K, Mehdi SQ, Payne AM, Bhattacharya SS. A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. Am J Hum Genet 1998; 62: 1113-1116.
4. 4) Morle L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P. A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. Am J Hum Genet 2000; 67: 1592-1597.
5. 5) Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet 2000; 25: 397-401.
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