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Biomedical subjects

S Oka

Publications and source records attributed to S Oka.

At least 523 records · Page 29Linked to original sources

LBA technique in the detection of chromosome variants. II. Chromosomes except for those with Q variants.

In Part I of this communication, a technique (LBA) was described which used DNA replication in the evaluation of chromosome variants in man. It was shown that the method was very useful in the detection of variants in D- and G-group chromosomes. Results on pars 3 and 4 were also presented. In Part II, the rest of chromosomes were examined. In the evaluation of qh variants in 1, 9 and 16, the LBA technique proved itself to be a very effective implement. It was practically free of technical variables coherent with C-band technique and, therefore, it was possible to use the size of an euchromatic segment of a chromosome as a reference standard. LBA variants were observed in about 50% of the members of the remaining 12 pairs of chromosomes, i.e., 2, 5, 6, 7, 8, 10, 11, 12, 17, 18, 19, and 20.

Chromosomes, Human↗

A case of (13q;18q) translocation with proximal 13q monosomy.

A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.

Abnormalities, Multiple↗