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A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a… (More)
A male infant with a partial trisomy 18 and a 46,XY, --21, t(18;21)(18qter replaced by 18q12::21 p13 replaced by 21 qter) chromosome complement is described. The translocation chromosome is of special interest because it includes the satellites of chromosome 21. This was shown by differential satellite staining with the ammoniacal-silver technique.
Six inbred persons (five males and one female) in three generations of a single family are reported as having simple congenital absence of skin on the upper or lower limbs or both. The data suggest an autosomal recessive pattern of inheritance for this apparently new clinical entity.
Serum TSH was studied in 22 patients with Down syndrome, from 4 to 15 years old. In 6 of these patients radioidine uptake by thyroid gland after 2 and 24 hours of administration and clearance rates before and after TSH stimulus (10 mul-IM) were measured. Results show that serum TSH was normal in 17 patients and above normal limits in 5 patients. Thyroid… (More)
In this paper it is done the genetic study of a large family that segregates the hereditary optical atrophy gene. The modality of the hereditary transmission is the sex-linked recessive form (Leber's form). Five generations were studied, with a total of 134 individuals. Thirteen are affected (12 men: 1 woman). The study of the heredogram allows the… (More)
The presence of antithyroid antibodies (antithyroglobulin and antimicrosomal) in serum of patients with Down's syndrome and their respective mothers were studied based on data from the literature, showing a possible correlation between the presence of these antibodies in the serum of mothers and the birth of mongoloid children. Antithyroid antibodies were… (More)
The thyroid function (T-3 triiodothyronine; T-4 tetraiodothyronine and the captation of the I131 through the thyroid, in 2 and 24 hours after the intake of isotope radium), was studied in patients with Down's syndrome and the results being compared to those obtained from the respective siblings, all clinically normal. The comparative results showed no… (More)