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  • Title: Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review.
    Author: Lessick ML, Szego K, Wong PW.
    Journal: Clin Pediatr (Phila); 1988 Sep; 27(9):451-4. PubMed ID: 3046809.
    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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