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Tetrasomy 18p in a child with trisomy 18 phenotype

✍ 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 8.5‐year‐old 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.

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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

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