Trisomy 8 Mosaicism

Philip A. Walravens, Arnold Greensher, John W. Sparks, Richard L. Wesenberg

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Multiple congenital abnormalities including peculiar facies, hand and foot digital deformities, and absent patellae were noted in a small-for-gestational age male infant. Suspicion of the group C mosaicism syndrome was confirmed by chromosomal analysis and banding studies that disclosed a chromosome number 8 mosaicism. The infant subsequently developed hydrocephalus that was treated by ventriculoperitoneal shunting. Additional features in this infant included esotropia, blepharophimosis, and gingival hypertrophy with cleft formation. Developmental evaluation demonstrated a mild delay in the personal, social, and language function, whereas, the gross-motor and fine-motor adaptative fields were more severely retarded.

Original languageEnglish (US)
Pages (from-to)564-566
Number of pages3
JournalAmerican Journal of Diseases of Children
Volume128
Issue number4
DOIs
Publication statusPublished - Oct 1974

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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