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Trisomy 18 mosaicism: Clues to the diagnosis
Author(s) -
Bass Harold N.,
Fox Michelle,
Wulfsberg Eric,
Sparkes Robert S.,
Crandall BarbaraF
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb01848.x
Subject(s) - trisomy , karyotype , phenotype , biology , peripheral blood , aneuploidy , genetics , skin biopsy , chromosome , biopsy , pathology , medicine , immunology , gene
Karyotypes of blood and skin fibroblasts at ages 3 and 8.5 years had shown non‐mosaic trisomy 18 in a male now of age 19. Because of his prolonged survival and an atypical phenotype, skin fibroblast cultures from a new biopsy were established at age 1 8 , and only normal 46, XY cells were observed, while peripheral blood lymphocytes still demonstrated 47, XY,+18. This patient and six others with trisomy 18 mosaicism illustrate the advisability of looking for such a pattern in individuals whose phenotype in early life is not fully consistent with the trisomy 18 syndrome. Additional clues to the presence of trisomy 18 mosaicism are male sex, survival beyond 2 years and lack of fingertip arches.