Trisomy 22 Mosaicism with Normal Blood Chromosomes
- 1 September 1988
- journal article
- other
- Published by SAGE Publications in Clinical Pediatrics
- Vol. 27 (9) , 451-454
- https://doi.org/10.1177/000992288802700908
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. Cytogenetic evaluation of a second tissue (preferably skin) is suggested in patients with physical and mental abnormalities who have normal blood chromosome studies.Keywords
This publication has 22 references indexed in Scilit:
- Complete trisomy 22Clinical Genetics, 2008
- Chromosomal mosaicism confined to chorionic tissuePrenatal Diagnosis, 1987
- Mosaic trisomy 7 and renal dysplasiaAmerican Journal of Medical Genetics, 1987
- Chromosomal mosaicism of trisomy 7 restricted to chorionic villiAmerican Journal of Medical Genetics, 1986
- Chromosomal Mosaicism Confined to the Placenta in Human ConceptionsScience, 1983
- Two successive partial trisomies for opposite halves of chromosome 22 in a mother with a balanced translocation.Journal of Medical Genetics, 1982
- Partial trisomy 22: A recognizable syndromeClinical Genetics, 1977
- Trisomy 22 mosaicism.Journal of Medical Genetics, 1977
- Confirmation of trisomy 22 by trypsin-giemsa staining.Journal of Medical Genetics, 1976
- Trisomy 22. Two new cases and delineation of the phenotype.Journal of Medical Genetics, 1975