Short-arm deletion, chromosome 4, (4p-), a syndrome?
β Scribed by A. I. TAYLOR; D. N. CHALLACOMBE; R. M. HOWLETT
- Book ID
- 115247187
- Publisher
- John Wiley and Sons
- Year
- 1970
- Tongue
- English
- Weight
- 661 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0003-4800
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A 13-year-old girl presented with microcephaly, short and broad neck, low posterior hairline, congenital heart disease, limitation of joint movement, and mild mental retardation. Chromosomal analysis showed interstitial deletion of band p14 of the short arm of chromosome 7. The patient's physical an
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