1992 Volume 31 Issue 9 Pages 1102-1106
Pentasomy X mosaic in two adult sisters with non-insulin dependent diabetes mellitus is described. The younger sister had schizophrenia, and both were mentally retarded, but no apparent somatic abnormalities were found. Chromosome analyses revealed karyotype 45, X/46, XX/47, XXX/48, XXXX/49, XXXXX mosaic with a low frequency of aneuploidy on cultured peripheral lymphocytes and 46, XX on cultured skin fibroblasts in both sisters. The low frequency of X chromosome aberration may be responsible for the lack of somatic abnormalities and the long life in both sisters. The association of pentasomy X mosaicism and diabetes mellitus however appears to be coincidental.
(Internal Medicine 31 : 1102-1106, 1992)