Concordant congenital malformations in twins with inherited translocation: t(9p-;13q+)
| Autor: | Kutay Taysi, Gurbax Singh Sekhon |
|---|---|
| Rok vydání: | 1979 |
| Předmět: |
Adult
Chromosomes Human 6-12 and X Genetics Infant Congenital malformations Chromosomal translocation Chromosome 9 Biology Translocation Genetic Human genetics Pedigree Phenotype Karyotyping Clinical diagnosis Diseases in Twins Humans Abnormalities Multiple Female 9p monosomy syndrome Chromosomes Human 13-15 Genetics (clinical) Maternal grandmother Chromosome 13 |
| Zdroj: | Human Genetics. 50:271-276 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00399392 |
| Popis: | Several members of a family with a translocation between the short arm of chromosome 9 and the long arm of chromosome 13(9p--;13q+) are presented. Although the translocation found in various members of the family looked alike and appeared to be balanced, the clinical features were different. The like-sex twins displayed some features of 9p monosomy syndrome, whereas their mother and maternal grandmother, who apparently had the same translocation, showed only a few features of 9p-- syndrome in addition to mild mental retardation. We suggest that a minute deletion of the short arm of chromosome 9 may cause features of 9p-- syndrome and that the clinical features of this syndrome in older individuals may be too mild for the clinical diagnosis to be possible. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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