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Review
. 1988 Sep;27(9):451-4.
doi: 10.1177/000992288802700908.

Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review

M L Lessick  1 , K Szego, P W Wong
Affiliations
Review

Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review

M L Lessick et al. Clin Pediatr (Phila). 1988 Sep.

Abstract

A female infant with growth failure, microcephaly, hypertelorism, epicanthal folds, preauricular pit, congenital heart defect, hypotonia, and delayed development is reported. Trisomy 22 mosaicism (46,XX/47,XX,+22) was found in cultured skin fibroblasts but not in blood lymphocytes. Trisomy restricted to skin fibroblasts is uncommon.

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