Contribution to the 18q‐ syndrome. A patient with del (18) (q22.3qter)
- 31 March 1987
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 31 (4), 206-210
- https://doi.org/10.1111/j.1399-0004.1987.tb02797.x
Abstract
A patient with the typical features of the 18q- syndrome, but with the deletion restricted to the most distal part, bands q22.3.fwdarw.qter is reported. The cytogenetic finding is supported by a decrease in activity of the enzyme peptidase A.Keywords
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