Biomedical subjects
Publications and source records attributed to S D Flatz.
The cytogenetic analysis of a 7-month-old retarded girl with clinical signs compatible with partial trisomy 13 revealed a translocation t(4;13)(q33;q14) and an additional derivative chromosome 13. This karyotype probably resulted from 3:1 segregation during meiosis of the patient's mother.
A Female infant is described with marked acceleration of her osseous maturation, unusual facial features, hypotonia and hypertrichosis. She was in respiratory distress and had feeding problems. She died at the age of 18 days.
A 45, X/46,XY mosaicism was found in a male infant with stigmata of Turner's syndrome but normal male external genitalia. In contrast to the Y chromosome of his father, the Y chromosome of the patient does not display either the characteristic brilliant fluorescence or the typical dark heterochromatin staining of the distal long arm. Furthermore, DNA replication in the abnormal Y chromosome was shown to be premature. Mechanisms leading to the observed abnormalities are discussed.
A male infant is described with unusual facial appearance, clubfeet, and moderate hydrocephalus internus without obvious deficiency in mental and physical development. Cytogenetic studies revealed a karyotype of 45,XY,--C,--D,+t(C;D). A chromosome 11 and a 13 are involved in the formation of the translocation chromosome. The long arm of chromosome 13 is linearly attached to the end of the long arm of chromosome 11 (tandem translocation). Chromosome material of the distal part of the long arm of chromosome 11, as well as the short arm plus the centromere of chromosome 13 seem to have been lost.
Explore the source record for details and available documents.
Lactose-absorption capacity was examined in 275 apparently healthy Polish adolescents and adults (214 females and 61 males with an average age of 29.1 years) using a field version of the lactose-tolerance test with breath hydrogen determination. In the total group, 172 lactose absorbers (62.5%) and 103 lactose malabsorbers (37.5%) were identified. Reported milk intolerance and symptoms of lactose intolerance were significantly more frequent in lactose malabsorbers. Subdivision according to the birthplaces of the probands' grandparents did not reveal significant regional differences. The unexpectedly high frequency of lactose malabsorption is further evidence for concentric genetic clines of lactase gene frequencies extending from southern Scandinavia, the area with the lowest observed frequencies of selective adult hypolactasia, to the south and the east.