Extreme variant of the short arm of chromosome 15
✍ Scribed by U. Friedrich,A. J. Therkelsen,A. L. Jørgensen,M. Caprani,E. Niebuhr
- Book ID
- 118292199
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 162 KB
- Volume
- 97
- Category
- Article
- ISSN
- 0340-6717
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The absence of silver grain precipitation on human chromosome 17, consistently observed in four patients displaying the 17p variant, supports the hypothesis that the 17p variant is a structural heteromorphism rather than translocated satellite material.
Two boys (W.M. and C.P.) are described, in each of whom a short-arm deleted C chromosome was apparently present. The clinical findings on W.M. are stenosis of the sagittal sutura associated with atrophy of the nervus opticus and mental retardation, and on C.P. osteogenesis imperfecta. An analysis of