Familial translocation (3p 15p) with partial trisomy for the upper arm of chromosome 3 in two sibs.
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Biomedical subjects
Publications and source records attributed to M Bobrow.
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45,XO/46,XYq dic mosaicism was found in a patient with ambiguous genitalia. The patient had dysgenetic testis and gonadoblastoma. The same mosaicism was found in skin and gonadal tissue cultured fibroblasts. Localization of the genes related to height and male determination is discussed.
The segregation of human enzymes and chromosomes has been studied in more than 30 independent primary human-rodent somatic cell hybrids and a series of 64 subclones. The results strongly suggest that the locus determining AK1, 'red cell' adenylate kinase, is on chromosome 9 in man, and hence that the locus for the ABO blood groups and that for the Nail-patella syndrome may also be assigned to this chromosome. Evidence is presented indicating that another adenylate kinase, nucleoside triphosphate adenylate kinase, and also the soluble form of aconitase, are probably syntenic with AK1, and that the mitochondrial form of aconitase is probably not syntenic with these loci.
An extreme variation of the short arm of no. 21 chromosome in the mother of a 21/21 translocation mongol is described. The possible relation between the very long short arm of chromosome no. 21 in the mother and a centric fusion type of translocation mongolism in the offspring is discussed.
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The spina bifida/anencephaly complex in man in some ways resembles the effects of T-locus mutants in the mouse. To test the hypothesis that these entities are genetically related, HL-A typing was performed in families with multiple cases of central nervous system abnormality. No evidence of linkage was found between HL-A type and the congenital malformation.
Eleven independent man-mouse hybrids and 40 subclones from four to them were analysed for up to 42 enzyme markers. Nine subclones from three hybrid lines were fully karyotyped. The data presented suggest that the gene for the human enzyme MOR-M can be assigned to chromosome 7, whilst those for MPI and PK-3 are on chromosome 15. The use of a small number of well-characterized hybrids for gene assigments is discussed as well as the significance of some known human linkage relationships.
Five cases of chromosome imbalance resulting from 3:1 disjunction of reciprocal translocations are described. A review of the literature suggests this phenomenon is more common than has previously been recognized.
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