Mosaic tetraploidy in a liveborn infant with features of the DiGeorge anomaly
β Scribed by B. Wullich; W. Henn; E. Groterath; A. Ermis; S. Fuchs; M. Zankl
- Book ID
- 115090264
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 291 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0009-9163
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Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnor
We report on a newborn infant with multiple congenital anomalies and apparent nonmosaic trisomy 9 in the blood (by conventional cytogenetic studies) who died shortly after birth. Clinical observations at birth and autopsy are compared with phenotypes of mosaic and nonmosaic trisomy 9 cases reported