Pentasomy X mosaic in two adult sisters with diabetes mellitus.

Abstract

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.

• Authors: S Nakano, A Sasame, S Azukizawa, T Kigoshi, K Uchida, H Takahashi, S Morimoto
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 31 Issue 9 Pg. 1102-6 (Sep 1992) ISSN: 0918-2918 [Print] Japan
• PMID: 1421717 (Publication Type: Case Reports, Journal Article)

Topics

• Aneuploidy
• Diabetes Mellitus, Type 2 (complications)
• Family Health
• Humans
• Intellectual Disability (complications, genetics)
• Karyotyping
• Male
• Middle Aged
• Mosaicism
• Sex Chromosome Aberrations
• X Chromosome