| Autor: |
M F, Mohrschladt, E K, Bijlsma, S, Sluijter, R F, De Coo, J M, Hoovers, N J, Leschot |
| Rok vydání: |
1999 |
| Předmět: |
|
| Zdroj: |
Clinical dysmorphology. 8(3) |
| 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 |
| Externí odkaz: |
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