We report on a newborn infant with a de novo triplication of the distal segment of 5p: 46,XX,trp(5)(pterβp14::p14βp15.33::p15.33β qter) and multiple congenital anomalies consistent with triplication of 5p. Partial triplication was documented by fluorescence in situ hybridization with a cosmid probe
Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization
β Scribed by Zenhger-Hain, Julie L. ;van Dyke, Daniel L. ;Wiktor, Anne ;Walker, Hugh ;Feldman, Gerald L.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 388 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0148-7299
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