A 21-year-old mentally retarded female with 10p12 trisomy is reported. She presented a slight craniofacial dysmorphism very similar to that found in the full 10p-trisomy syndrome. Other features usually found in full 10p trisomy, however, such as failure to thrive and internal malformations, were ab
β¦ LIBER β¦
Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication
β Scribed by U. Moog; J. J. M. Engelen; C. E. M. de Die-Smulders; J. C. M. Albrechts; W. H. Loneus; A. A. M. Haagen; E. J. M. Raven; A. J. H. Hamers
- Book ID
- 115091626
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 644 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0009-9163
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