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J Med Genet. 1994 Feb;31(2):141-4.

Hydrocephalus in an infant with trisomy 22.

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1
Department of Pediatrics, St Joseph's Hospital and Medical Center, Paterson, New Jersey 07503.

Abstract

We present an infant with true trisomy 22. Mosaicism is ruled out by the finding of a 47,XX, +22 karyotype in all cells analysed originating from two embryonic germ layers. The physical findings are consistent with the previously noted features including developmental delay, ear abnormalities, micrognathia, clefting, and congenital heart disease. The patient is the first described with macrocephaly and hydrocephalus and the second with holoprosencephaly.

PMID:
8182721
PMCID:
PMC1049677
[Indexed for MEDLINE]
Free PMC Article
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