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Biomedical subjects

M Penttinen

Publications and source records attributed to M Penttinen.

23 records · Page 2Linked to original sources

Ring chromosome 20 mosaicism in a girl with complex partial seizures.

The authors report an 11-year-old girl with epilepsy, poor school-performance and minor behavioural disorders. The epilepsy is characterized by complex partial seizures, sometimes progressing secondarily into generalized tonic-clonic seizures, and is poorly controlled by medical treatment. Chromosomal analysis revealed a ring chromosome 20 mosaicism. The affected patient shows signs of ring chromosome 20 syndrome, characterized in the present case by poor school-performance, behavioural disorders and epilepsy.

Child↗

Ophthalmic findings in dyslexic schoolchildren.

The ophthalmic findings of 55 dyslexic 12 to 13-year-old Finnish schoolchildren and 50 age, sex, and social class-matched control children were evaluated. On a neuropsychological basis the children could be divided into six subgroups: general deficiency, general language, visuomotor, naming, mixed, and normal. The two groups did not differ significantly from each other in visual acuity, cycloplegic refraction, the amount of phorias and tropias, stereo acuity, fusion, or accommodation. Convergence near point > or = 8 cm was, however, statistically more frequent in the dyslexic group. This finding was also significant in the general deficiency subgroup compared with the other subgroups. The most conspicuous common denominator in those with dyslexia was revealed to be the convergence insufficiency type of exodeviation, occurring in 38% of the general deficiency dyslexic subgroup and in 36% of the visuomotor dyslexic subgroup. This finding suggests a low accommodative convergence/accommodation ratio in these children.

Accommodation, Ocular↗

Linkage to Xq28 in a family with nonspecific X-linked mental retardation.

Linkage analysis was performed in a family with nonspecific X-linked mental retardation (MRX). Affected individuals had no clinical characteristics other than mental retardation. Linkage was detected to the marker loci DXS477, DXS465, DXS52, DXS15 and F8C with maximum lod scores of 1.70, 1.32, 2.52, 1.70, and 1.09, respectively (theta = 0.0). The results strongly indicate that the gene for mental retardation in the family studied maps close to DXS52.

Female↗