Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotype
- 1 December 1980
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 18 (6) , 428-433
- https://doi.org/10.1111/j.1399-0004.1980.tb01788.x
Abstract
A case of a 37-year-old male patient with r(15) is reported. At birth he was small and light for dates. His main features are: short stature, head circumference in the lower normal range, mid-facial hypoplasia, radial defects, and mental retardation. Evaluation of the phenotype led us to conclude that a wide spectrum of malformations is possible. There is apparently no strong correlation between karyotype and phenotype.Keywords
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