Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype
| Autor: | M. Poscente, M. Assumma, Paola Grammatico, Barbara Grammatico, E. Buffone, C. De Bernardo, Rosanna Rinaldi |
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| Rok vydání: | 2003 |
| Předmět: |
Heart Defects
Congenital Male Heart disease Chromosomal translocation Biology Translocation Genetic Genetic determinism Pathogenesis Gene Duplication Gene duplication medicine Humans Abnormalities Multiple In Situ Hybridization Fluorescence Genetics (clinical) Chromosome Aberrations Chromosomes Human Pair 14 Genetics Psychomotor retardation Breakpoint Infant medicine.disease Phenotype Chromosome Banding Thumb Karyotyping Urogenital Abnormalities Chromosomes Human Pair 4 Psychomotor Disorders medicine.symptom |
| Zdroj: | American Journal of Medical Genetics. :122-126 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.a.10093 |
| Popis: | We report on a newborn with severe psychomotor retardation, minor anomalies, congenital heart defects, thumb and urogenital abnormalities. Cytogenetic analysis showed a 4q24qter duplication, never described before, as the result of a de novo t(4;14). The extension of the duplicated 4q region was defined by FISH using YAC probes. The breakpoint was localized between 106.3cM (YAC 800f2, D4S1572) and 111 cM (YAC 744e4, D4S1564). Comparing our patient with those previously reported in literature, we observed some features mature frequently reported in these patients: psychomotor retardation, retromicrognathia, low set and/or malformed ears and some more specific traits: congenital cardiac defects, hypoplastic thumb and urogenital abnormalities. |
| Databáze: | OpenAIRE |
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