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Biomedical subjects

S Misawa

Publications and source records attributed to S Misawa.

At least 361 records · Page 20Linked to original sources
PubMed1977

Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome.

A 3-year-old boy with partial No. 9 tetrasomy is described. The patient showed markedly retarded physical and mental development as well as multiple congenital anomalies. Routine chromosome analysis revealed an extra C-group chromosome. It had a pronounced secondary constriction at the proximal part of its long arm. Based on studies by a variety of banding techniques, the extra chromosome was identified to be an iso-dicentric No. 9 chromosome with inactivation of one of the two centromeres, the karyotype being 47,XY, + DIC (9)(Q2101). The value of BrdUrd treatment was emphasized in the detection of a very small piece of euchromatin within a long stretch of constitutive heterochromatin.

Abnormalities, Multiple↗
PubMed1976

The distribution of the third complement component and other polymorphic traits in rheumatoid arthritis.

The distribution of C'3 phenotypes in 61 seropositive rheumatoid arthritis patients and 464 normal blood donors in Tokyo was examined by high-voltage agarose gel electrophoresis. The allele of the common European variant, C3(F), is absent in Japanese, but another F allels, C3(Frare), is present with a frequency of 0.025 and 0.013 in RA patients and blood donors, respectively; the difference is not statistically significant. The distribution of phenotypes for several other enzyme systems was also determined in an attempt to detect association with RA Again, no statistically significant differences were found.

Arthritis, Rheumatoid↗
PubMed1975

Red cell uridine monophosphate kinase polymorphism in Japanese.

Samples from 635 unrelated Japanese blood doners in Tokyo were examined for their red cell uridine monophosphate kinase phenotypes using starch gel electrophoresis. Three phenotypes were found: UMPK1 (570, 89.76%), UMPK 2--1 (63, 9.92%) and UMPK 2 (2, 0.32%). The corresponding gene frequency for UMPK1 was 0.9472 and for UMPK2 was 0.0528. The UMPK2 frequency in the present study was slightly higher than the previously reported value for Caucasians in the United States, but the difference is not statistically significant. A study of 15 twin pairs and their parents was in agreement with the hypothesis of autosomal codominant inheritance for UMPK.

Erythrocytes↗
PubMed1975

Transmission of a t(13q22q) chromosome observed in three generations with segregation of the translocation D1-trisomy syndrome.

A case of an inherited type of D/G translocation D1-trisomy syndrome was described. A female proposita who had the clinical signs of D1-trisomy syndrome was found to have a chromosome complement of 46,XX,--G,+t(DqGq). examination of Q- and G-stained karyotypes revealed that the chromosomes involved in the translocation were members of Nos. 13 and 22, or t(13q22q) with breaks at p12 of both chromosomes. C-stained figures also showed a large heterochromatin block in its centromeric region. The t(13q22q) chromosome was transmitted from the paternal grandmother of the proposita through at least three generations.

Abnormalities, Multiple↗