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J L Hamerton

Publications and source records attributed to J L Hamerton.

At least 109 records · Page 6Linked to original sources
PubMed1974

A 48, XXXX female.

Explore the source record for details and available documents.

Child, Preschool↗
PubMed1973

Regional localization of loci for human PGM and 6PGD on human chromosome one by use of hybrids of Chinese hamster-human somatic cells.

The human gene loci phosphoglucomutase(1) (PGM(1), EC 2.7.5.1) and 6-phosphogluconate dehydrogenase (6PGD, EC 1.1.1.43), which are located on human chromosome one, have been assigned to a specific region of the short arm of that chromosome, by use of a hybrid cell line derived from a Chinese hamster cell line deficient in hypoxanthine phosphoribosyl transferase and a strain of human diploid fibroblasts. Cytogenetic analysis of a hybrid clone maintained for about 50 generations in vitro revealed two populations of cells, the first containing a human chromosome one with a break point at band 1p33, such that about 25% of the short arm of this chromosome was deleted. The second cell population contained a normal chromosome one. Biochemical analysis of subclones derived by cloning this mixed population revealed two phenotypic classes, one of which expressed all three chromosome-one markers, PGM(1), 6PGD, and peptidase C (Pep C), while the other expressed only Pep C. Cytogenetic analysis showed that the subclones expressing all three markers carried the normal human chromosome one, while those expressing only Pep C carried the deleted chromosome. These data indicate that the human gene loci PGM(1) and 6PGD are located on the short arm of chromosome one distal to the break point, while Pep C lies elsewhere on the chromosome.

Animals↗
PubMed1972

Chromosome studies in a neonatal population.

The results of chromosome studies on 6809 consecutive newborn infants are presented. One hundred and one (1.48%) were heterozygous for a marker chromosome, the significance of which is not at present clear. Twenty-two infants (0.32%) had a major chromosome abnormality. Only six of these infants (0.09%) had a clinically recognizable abnormal phenotype (Down's syndrome). The occult chromosome abnormalities included five sex chromosome abnormalities (one 47,XYY; two 47,XXY; two 47,XXX) and 11 balanced translocations. Seven of these were t(DqDq) and four were reciprocal translocations. The results of the present survey are combined with four other similar neonatal surveys in which a total of 23,328 newborns have been screened. Of these, 117 (0.5%; range 0.65-0.32%) had major chromosome abnormalities. The majority of these (72.7%) would not have been detected at birth without chromosome studies, an important fact in the context of prenatal diagnosis of chromosome disease and the early ascertainment of high-risk families.

Cells, Cultured↗