Deletion of the short arm of chromosome 9
β Scribed by J. P. Fryns; J. C. Pedersen; H. Duyck; G. Fabry; H. Berghe
- Publisher
- Springer
- Year
- 1980
- Tongue
- English
- Weight
- 755 KB
- Volume
- 134
- Category
- Article
- ISSN
- 0340-6997
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π SIMILAR VOLUMES
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
A 46, XX, del(20) (p11) karyotype (Paris Conference, 1971) was identified in an 11-month-old French-Canadian girl with a dysmorphic syndrome, multiple congenital anomalies, psychomotor and growth retardation. Both parents had normal phenotype and karyotype.
## Abstract We report on a patient with deficiency of distal 6p and compare the clinical and cytogenetic findings in this child with those of three previously reported patients who had similar deletions. Distal del(6p) appears to be associated with a relatively nonβspecific phenotype, with the poss