Paracentric inversion inv(11) (q21q23) in the Netherlands
| Autor: | C. J. van Asperen, A. S. P. M. Breed, J. O. Van Hemel, K. Madan, A. J. H. Hamers, L. P. Kuyt, J. M. de Pater, Dominique Smeets, T. W. J. Hustinx, M.H.E.C. Pieters, K. B. J. Gerssen-Schoorl |
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| Rok vydání: | 1990 |
| Předmět: |
Chromosome Aberrations
Male Genetics Chromosomes Human Pair 11 Genetic Carrier Screening Chromosome Disorders Biology Pedigree Abortion Spontaneous Pays bas Inversion (linguistics) Phenotype Sex Factors Pregnancy Prenatal Diagnosis Chromosome Inversion Humans Female Single mutation Genetics (clinical) Netherlands Chromosomal inversion |
| Zdroj: | HUMAN GENETICS, 85(1), 15-20. SPRINGER |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00276319 |
| Popis: | We report the result of investigations from 20 families with 72 carriers of the paracentric inversion inv(11)(q21q23) in the Netherlands. There is no increase in the rate of spontaneous abortions among carriers of the inversion or their partners. Also, so far, there are no children with recombinant chromosomes arising from the inversion. It is doubtful whether prenatal diagnosis would be helpful to carriers of this inversion. The results of the genealogy study and geographical distribution are discussed; it is suggested that all the families have arisen from a single mutation. |
| Databáze: | OpenAIRE |
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