Mother and son with deletion of 3p25‐pter
- 1 May 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 39 (2), 130-132
- https://doi.org/10.1002/ajmg.1320390203
Abstract
We report on a mother and son with a 3p25‐pter deletion. Both have postnatal growth retardation, mental retardation, apparently low‐set or malformed ears, and telecanthus. The mother also has ptosis and multiple joint pains, while the son has a long philtrum and anteverted nares. These phenotypes are compared to those of other 3p‐ patients. Both patients have many manifestations previously described. The son appears to be more severely affected than the mother.Keywords
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