Tetrasomy 18p in a child with trisomy 18 phenotype
β Scribed by Singer, T. S. ;Kohn, G. ;Yatziv, S.
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 335 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0148-7299
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## Abstract We describe an 8.5βyearβold boy with facial dysmorphism consisting of a round and flat face, telecanthus, periorbital fullness, short nose, downturned corners of the mouth, and micrognathia. In addition, profound mental retardation, tetralogy of Fallot, and renal dysplasia were present.
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