Population cytogenetic investigation of newborns in Moscow
| Autor: | V. I. Alekhin, A. N. Chebotarev, N. P. Kuleshov, S. A. Midian, N. P. Bochkov |
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| Rok vydání: | 1974 |
| Předmět: |
Male
medicine.medical_specialty Somatic cell Population Twins Aneuploidy Chromosome Disorders Trisomy Biology Moscow Pregnancy medicine Humans Mass Screening Abnormalities Multiple Lymphocytes education Metaphase Sex Chromosome Aberrations Probability Chromosome Aberrations education.field_of_study Fetus Cytogenetic investigation Obstetrics Mosaicism Infant Newborn Chromosome General Medicine medicine.disease Clone Cells Karyotyping Mutation Chromosome abnormality Female Infant Premature |
| Zdroj: | Humangenetik. 22(2) |
| ISSN: | 0018-7348 |
| Popis: | The cytogenetic study was undertaken of an unselected group of newborns, a group of newborns with congenital malformations, and a group of premature babies. The examination of 2500 consecutive births revealed various chromosome abnormalities in 19 infants (0.76%) and various chromosome microabnormalities with no phenotypic manifestations in 38 newborns (1.52%). The frequency of chromosome abnormalities in newborns with recognizable major and multiple physical congenital malformations was 13.64%. We used our findings and literature data to calculate the frequencies of D and E trisomies in the general population; they averaged 1:10000 and 1:7500 births respectively. A high frequency of karyotypic abnormalities was revealed in premature babies. The frequency of spontaneous chromosome aberrations in somatic cells of newborns was found to be 1.32%. The same index in premature babies appeared to be 7.39%, which is suggestive of the degree of environmental effect on the embryonal and fetal development. The frequency of aneuploidy in somatic cells was 4.13%. The loss of chromosomes correlated closely with their lengths in metaphase, the size of chromosomes being inversely proportional to the risk of loss. The general principles to be observed in conducting the population cytogenetic investigations with analysis of mosaicism were established |
| Databáze: | OpenAIRE |
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