Autosomal Monosomy in Man
- 12 October 1967
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 277 (15) , 777-784
- https://doi.org/10.1056/nejm196710122771502
Abstract
AUTOSOMAL aneuploidy in man has been known for eight years in the form of autosomal trisomy for chromosome 21.1 Another form of autosomal aneuploidy, monosomy, is usually considered to be incompatible with life. Several cases in which 1 cell line had monosomy for an autosomal chromosome (in all cases a small acrocentric chromosome) have been reported by Lejeune et al,2 Cohen3 and Thorburn and Johnson.4 The first case of complete monosomy for chromosome 21–22 in cultured peripheral blood lymphocytes, bone marrow and cultured skin fibroblasts is described in this report.Case ReportA white girl born on November 4, 1962, . . .Keywords
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