47,XXY/48,XXXY/49,XXXXY Mosaicism in a 4-Year-Old Child

Nataline B. Kardon, Nicholas G. Beratis, Lillian Y.F. Hsu, Ralph E. Moloshok, Kurt Hirschhorn

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


A 4-year-old child with a small penis and small firm testes was found to have XXY/XXXY/XXXXY mosaicism. His growth and development were normal except for delayed speech. Intelligence quotient at 4 years of age was normal. Since Klinefelter's syndrome is usually not diagnosed before puberty, the finding of a small penis and small firm testes in an otherwise normal prepubescent boy should alert the physician to the possibility of this diagnosis.

Original languageEnglish
Pages (from-to)160-162
Number of pages3
JournalAmerican Journal of Diseases of Children
Issue number2
StatePublished - Aug 1971


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