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Mother and son with deletion of 3p25-pter
J Tazelaar1, J Roberson, D L Van Dyke
1Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit, Michigan 48202.
American Journal of Medical Genetics
|May 1, 1991
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.