✦ LIBER ✦
Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype
✍ Scribed by J. P. Fryns; L. Vinken; J. Marien; H. Berghe
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 160 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
Partial 18q12 trisomy, due to intrachromosomal duplication, was found in a severely mentally retarded boy. The finding of nonspecific dysmorphism in this patient demonstrates that trisomy of band 18q12 is accompanied by neither a full nor an incomplete 18 trisomy phenotype, indicating that this phenotype may be due solely to trisomy of the 18q11 band.