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Clinical Pediatrics
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Trisomy 22 Mosaicism with Normal Blood Chromosomes

Case Report with Literature Review

Mira L. Lessick, PhD, RN

Section of Genetics, Rush-Presbyterian-St. Luke's Medical Center, 1750 West Harrison Street, Chicago, IL 60612

Katarina Szego, PhB

Section of Genetics, Rush-Presbyterian-St. Luke's Medical Center, 1750 West Harrison Street, Chicago, IL 60612

Paul W. K. Wong, MD, MSc

Section of Genetics, Rush-Presbyterian-St. Luke's Medical Center, 1750 West Harrison Street, Chicago, IL 60612

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.

Cytogenetic evaluation of a second tissue (preferably skin) is suggested in patients with physical and mental abnormalities who have normal blood chromosome studies.

Clinical Pediatrics, Vol. 27, No. 9, 451-454 (1988)
DOI: 10.1177/000992288802700908
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