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PubMed1989

[Genetics of partial trisomies. Trisomy 4p].

Phenotypic picture for two cytogenetically different variants of trisomy 4p (with and without involvement of the proximal part of 4q) obtained on the data of Minsk Teratologic Center and on the review of 64 cases from the world literature is presented. Mathematical evaluation of intrapair, within- and interfamilial similarity, depending on a duplicated segment, is given. It is shown that phenotypic similarity among patients in case of duplicated distal segments 4p15(16)----pter is significantly greater, while as the size of trisomic segment increases, the similarity goes down. Significant excess of within- over interfamilial similarity is shown, the fact that may be ascribed to a greater similarity of the genofonds in the group of relatives.

Chromosomes, Human, Pair 4↗

PubMed1978

Double trisomy as a mosaic. Case history (48, XYY, + 21/47,XY, +21) and survey of the literature of mixed autosomal-gonosomal trisomies.

The case of a boy is reported showing the typical symptoms of Down's syndrome, in whom the chromosome analysis revealed a mosaic karyotype: 50% 48,XYY,+21/50% 47,XY,+21. Findings of 92 cases from the literature are summarized to show the frequencies of double gonosome-autosome aneuploidies compared with single trisomies. Referring to the different chromosomes involved, the aneuploid cell formation, the frequencies of combinations, as well as the tendency to mosaic formation are analyzed. The age of parents at the time of birth and the life expectancy are described as well as the clinical symptoms. Theories concerning the origin of double aneuploidies are discussed.

Aneuploidy↗

PubMed1976

[Genetic clinical studies on patients with trisomy 21 with special evaluation of morphology and pathogenesis in the orofacial area. Palate height and width in trisomy 21].

Palate height and palate width in children and adolescents suffering from trisomy 21 are being analysed on casts using clinical assessments and measurements. Special evaluation is accorded to both the problems of comparability and the relations between various exogenous disturbance factors.

Adolescent↗

PubMed1976

[Genetic studies in patients with trisomy 21 with special evaluation of morphology and pathogenesis in the orofacial region. Condition of periodontal and oral hygiene in trisomy 21].

The incidence and severity of parodontopathies and results of studies of the level of oral hygiene are reported, in terms of both subjective and objective parameters, for children and juveniles affected with trisomy 21. Also discussed are problems of age and sex dependence; causal, complementary, and reciprocal relationships; and possibilities of prophylaxis.

Adolescent↗

PubMed1965