A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1)
| Autor: | Bijlsma Ek, Hoovers Jm, De Coo Rf, Leschot Nj, Sluijter S, Mohrschladt Mf |
|---|---|
| Přispěvatelé: | Surgery, Neurology, Other departments |
| Rok vydání: | 1999 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Psychomotor retardation business.industry Chromosome Chromosomal translocation Chromosome 9 General Medicine Interstitial duplication Phenotype Molecular biology Pathology and Forensic Medicine Pediatrics Perinatology and Child Health Gene duplication dup Medicine Anatomy medicine.symptom business Genetics (clinical) |
| Zdroj: | Scopus-Elsevier Clinical Dysmorphology, 8, 211-214. Lippincott Williams & Wilkins Clinical dysmorphology, 8(3), 211-214. Lippincott Williams and Wilkins |
| ISSN: | 0962-8827 |
| Popis: | We report on a 4-year-old child with psychomotor retardation, general hypotonia and only mild dysmorphic features. Her chromosome constitution was 46,XX, t (6;9) (q27;q22.1), dup (9) (q21.2q22.1). This de novo interstitial duplication was confirmed using fluorescence in situ hybridisation (FISH) with band-specific probes. This is the second report of a patient with an interstitial duplication of this region of the long arm of chromosome 9. It is concluded that in a child with an abnormal phenotype and a de novo (apparently) balanced translocation, the possibility of a small duplication or deletion should be considered. |
| Databáze: | OpenAIRE |
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