Mosaic trisomy of a small r(1) with an abnormal phenotype
β Scribed by Shanske, Alan L. ;Marion, Robert W.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 25 KB
- Volume
- 110
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
this journal published a case report of trisomy 18 mosaicism in a 13-year-old girl with normal intelligence, delayed pubertal development, and growth failure [Sarigol and Rogers, 19941. We now report a further case of trisomy 18 mosaicism with a mild phenotype, this time presenting with congenital a
A newborn infant born to consanguineous (first cousin) parents was noted to have complex congenital heart defect and minor anomalies suggestive of trisomy 18. Blood lymphocyte and skin fibroblast karyotypes were normal. He died in the neonatal period of postoperative complications. On interphase flu