18q- Syndrome
18q- Syndrome (18q Deletion Syndrome)
General: Chromosome 18q deletion syndrome.
Ocular: Macular "fibrosis"; Optic disk abnormalities with tractional retinal detachment, retinal degeneration, and tilting of the optic disk.
Clinical: Microcephaly; short stature; hypotonia; hypothyroidism; diabetes mellitus; short neck; sensorineural hearing loss; sensorimotor axonal neuropathy; mild-to-moderate mental retardation; chronic arthritis; seizures.
Gordon MF, et al. Dystonia in a patient with deletion of 18q. Mov Disord 1995; 10:496-499.
Hansen US, Herline T. Chronic arthritis in a boy with 18q- syndrome. J Rheumatol 1994; 21:1958-1959.
Smith A, Caradus V, Henry JG. Translocation 46X6 t(17;18)(q25;q21) in a mentally retarded boy with progressive eye abnormalities. Clin Genet 1979; 16:156-162.
General: Chromosome 18q deletion syndrome.
Ocular: Macular "fibrosis"; Optic disk abnormalities with tractional retinal detachment, retinal degeneration, and tilting of the optic disk.
Clinical: Microcephaly; short stature; hypotonia; hypothyroidism; diabetes mellitus; short neck; sensorineural hearing loss; sensorimotor axonal neuropathy; mild-to-moderate mental retardation; chronic arthritis; seizures.
Gordon MF, et al. Dystonia in a patient with deletion of 18q. Mov Disord 1995; 10:496-499.
Hansen US, Herline T. Chronic arthritis in a boy with 18q- syndrome. J Rheumatol 1994; 21:1958-1959.
Smith A, Caradus V, Henry JG. Translocation 46X6 t(17;18)(q25;q21) in a mentally retarded boy with progressive eye abnormalities. Clin Genet 1979; 16:156-162.
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