Mother and son with deletion of 3p25-pter

J. Tazelaar, J. Roberson, D. L. Van Dyke, V. R. Babu, L. Weiss

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)130-132
Number of pages3
JournalAmerican journal of medical genetics
Volume39
Issue number2
DOIs
StatePublished - Jan 1 1991

Keywords

  • 3p deletion
  • chromosome 3
  • growth retardation
  • mental retardation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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