Terminal deletion (14)(q32.3): a new case.
Open Access
- 1 April 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (4) , 261-263
- https://doi.org/10.1136/jmg.27.4.261
Abstract
A mildly dysmorphic, 2 year old girl with mental retardation was found to have a small de novo terminal deletion of the long arm of chromosome 14, del(14)(q32.3). She was found to have features in common with two previous terminal deletion cases and particularly with the well documented ring 14 syndrome, although seizures, a characteristic feature of ring 14, were notably absent.Keywords
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