Duplication 18p with mild influence on the phenotype
- 31 March 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 29 (4) , 871-874
- https://doi.org/10.1002/ajmg.1320290418
Abstract
Duplication I8p was found in a 12‐year‐old girl whose father carried a balanced translocation involving the same chromosome segment, t(18;21)(p11;p11). Our patient had delayed speech development, mild psychomotor retardation, epilepsy, and minor anomalies, including a low nasal bridge, anti‐mongolian eye slant, low‐set ears, and narrowly arched palate. These findings are compared with eight previously published cases.Keywords
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