Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case
โ Scribed by Paola Granata; Daniel Mazzola; Rossana Righi; Elio Minelli; Alessandro Salvatoni; Paolo Baroli; Federico Maggi; Rosario Casalone
- Book ID
- 113987200
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 456 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0003-3995
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We report on two additional cases with duplication of 9p, minor with facial anomalies and developmental delay. Using fluorescence in situ hybridization and single-copy probes, we showed that the first case was a direct duplication, whereas the second case was inverted. The extent of the direct dupli
A female infant with multiple congenital anomalies is presented. Cytogenetic study revealed the presence of a de novo, supernumerary, small telocentric chromosome exhibiting the banding pattern of the short arm of chromosome no. 10 [47,XX,+10p(pter----cen)]. Her clinical features were compatible wit