[The heredity of obesity. Epidemiologic evidence (1923-1990)].
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Biomedical subjects
Publications and source records attributed to S Armendares.
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A lymphocyte chromosome analysis was done in 85 cases of trisomy 21 Down syndrome, the objective being the identification of the frequency of mosaicism. In each case an attempt was made to analyse at least 100 metaphases. Sixteen cases of mixoploidy were found (18.8%) with two or more cellular lines. These findings are discussed in relation with the frequency of the association between Down's syndrome and other aneuploidies, the frequency of the diploid/trisomy 21 mosaicism, and the possible origin of the latter.
The parents of 85 Down syndrome cases with regular 21 trisomy were studied cytogenetically. The lymphocyte chromosomes were stained with G-banding technique and 100 metaphases were analyzed in the father, the mother and the index case. Among the mothers two cases of mosaic 46, XX/47, XX, +21 (2.35%) were found and among the fathers no mosaic cases were found. Reciprocal and robertsonian translocations were not observed. In one of the fathers a pericentric inversion of the Y chromosome (0.61%) was found. The results are compared with those of similar studies and discussed in relation to genetic counseling and to the possible existence of an "interchromosomal effect" in man.
The present paper investigates the use of G-bands chromosome heteromorphisms for illegitimacy testing. We studied both parents and 171 of their children in 80 families utilizing the material, in addition, to establish the procedures sensitivity. The results showed that one (0.6%) of the 171 children studied was illegitimate, which was much lower than the figure of 6.7% obtained in a similar population studied with three blood group systems and three serum genetic markers. We could show that the low efficiency of the G-band heteromorphisms is at least partially due to its low sensitivity, 27% as compared to 60% obtained with the other genetic markers.
The present paper describes two patients with Sturge-Weber and Klippel Trénaunay-Weber syndromes. Some etiopathogenic factors are analyzed. We suggest that the association of both diseases in the same patient may be due to a single autosomal dominant gene.
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