Variability of r(22) Chromosome Phenotypical Expression
Open Access
- 1 October 1977
- journal article
- case report
- Published by Cambridge University Press (CUP) in Acta geneticae medicae et gemellologiae
- Vol. 26 (3-4), 287-290
- https://doi.org/10.1017/s0001566000009788
Abstract
Two unrelated patients with multiple congenital malformations and severe mental retardation were found to be carrier of a non-mosaic ring 22 chromosome abnormality. These observations further confirm the phenotypical variability of r(22) expression, which makes unreliable the attempts to delineate a clinical profile of the syndromeKeywords
This publication has 1 reference indexed in Scilit:
- The G deletion syndromesThe Journal of Pediatrics, 1970