[Chronic plumbism in siblings with Sanfilippo's mucopolysaccharidosis].
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Biomedical subjects
Publications and source records attributed to P Dziuba.
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In 20 children with allergic diseases the histamine release of peripheral leukocytes by allergens has been investigated. Considerably higher histamine concentrations in comparison with the control have been found. The histamine release was in agreement with the results of skin tests.
An infant with a typical Edwards syndrome and a modal chromosome number of 46 is reported. In all cells analyzed one chromosome G was missing and an additional chromosome similar to a pair No. 16 was present. The phenotype of the child indicates that the extra element is a translocation between G and 18 chromosomes as in one case described previously.
A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal.
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Chromosomal investigations of lymphocytic cultures in 26 couples and 11 women with repeated miscarriages or children with congenital anomalies have been performed. In 5 cases chromosomal aberrations and in 3 cases chromosomal lesions have been found. These results are helpful in genetic consultation and aetiological investigations.
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