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Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformations

1983; Wiley; Volume: 16; Issue: 1 Linguagem: Inglês

10.1002/ajmg.1320160119

1096-8628

William G. Wilson, Mary Ann Shires, Kathy A. Willson, Herman E. Wyandt, Linda M. Harris, Thaddeus E. Kelly,

Tumors and Oncological Cases

Abstract We report on an adult woman with profound mental retardation and multiple anomalies who consists of 3 cell lines: one with trisomy 18, one with trisomy 13, and a normal cell line. Her phenotype includes manifestations of both trisomy syndromes. The origin of these cell lines could have been a doubly aneuploid (48,XX+ 13, + 18) or singly aneuploid (47,XX + 18 or 47,XX, + 13) zygote with subsequent mitotic nondisjunctions, or a normal zygote with multiple mitotic nondisjunctions. There have been four previous reports of mosaicism involving both trisomy D and trisomy E; all died in the first six months of life. Two of these cases had a doubly aneuploid (48,XX, + D + E) cell line. Our patient illustrates the need for study of several tissues in patients with complex aneuploidy syndromes or atypical manifestations of a given syndrome (such as prolonged survival), as well as the need for caution in counseling families about prognosis for survival in autosomal trisomies which usually are lethal.