Familial reciprocal translocation, t(2;10)(p24;q26), resulting in duplication 2p and deletion 10q
| Autor: | M. L. Coleman, L. M. Larson, C. R. Dolan, J. H. Saumur, W. A. Wasdahl, C. J. Schutta, Judith G. Hall |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Heterozygote Mutism Chromosomal translocation Biology Chromosome aberration Translocation Genetic Intellectual Disability Gene duplication Genetics Humans Abnormalities Multiple Dermatoglyphics Strabismus Genetics (clinical) Chromosomes Human 6-12 and X Chromosomes Human 1-3 Infant Newborn Chromosome Karyotype Heterozygote advantage Pedigree Child Preschool Karyotyping Female Chromosome Deletion |
| Zdroj: | Clinical Genetics. 21:187-195 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | We describe a familial reciprocal translocation between the distal part of the short arm of chromosome 2 and the long arm of chromosome 10. Five individuals in two generations had multiple congenital anomalies. Their karyotypes were 46,XX or XY, -10, + der(10), t(2;10)(p24;q26). Seven persons were balanced translocation carriers whose karyotypes were 46,XX or XY,t(2;10)(p24;q26). Common manifestations included mental retardation, strabismus, narrow high-arched palate, wide alveolar ridges, other facial abnormalities, genital abnormalities and mutism. The phenotype of the unbalanced individuals is compared to that of previously published cases of the syndrome of partial duplication 2p and to reported patients with partial deletion of 10q. |
| Databáze: | OpenAIRE |
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