Deletion of a portion of the long arm of chromosome 6
- 1 January 1980
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 5 (1) , 73-80
- https://doi.org/10.1002/ajmg.1320050110
Abstract
We describe a 3‐year‐old male with deletion of part of 6q. The karyotype was 46,XY,del(6q) in both lymphocytes and skin fibroblasts. The patient had: frontal bossing, epicanthal folds, broad nasal bridge, apparently low‐set and posteriorly angulated ears, micrognathia, cardiac defects, cleft palate, unusual digital anomalies, developmental retardation, and obstructive sleep apnea.Keywords
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