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Pentasomy X mosaic in two adult sisters with diabetes mellitus.
Intern Med. 1992 Sep; 31(9):1102-6.IM

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+Show Affiliations

Department of Internal Medicine, Kanazawa Medical University, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1421717

Citation

Nakano, S, et al. "Pentasomy X Mosaic in Two Adult Sisters With Diabetes Mellitus." Internal Medicine (Tokyo, Japan), vol. 31, no. 9, 1992, pp. 1102-6.
Nakano S, Sasame A, Azukizawa S, et al. Pentasomy X mosaic in two adult sisters with diabetes mellitus. Intern Med. 1992;31(9):1102-6.
Nakano, S., Sasame, A., Azukizawa, S., Kigoshi, T., Uchida, K., Takahashi, H., & Morimoto, S. (1992). Pentasomy X mosaic in two adult sisters with diabetes mellitus. Internal Medicine (Tokyo, Japan), 31(9), 1102-6.
Nakano S, et al. Pentasomy X Mosaic in Two Adult Sisters With Diabetes Mellitus. Intern Med. 1992;31(9):1102-6. PubMed PMID: 1421717.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pentasomy X mosaic in two adult sisters with diabetes mellitus. AU - Nakano,S, AU - Sasame,A, AU - Azukizawa,S, AU - Kigoshi,T, AU - Uchida,K, AU - Takahashi,H, AU - Morimoto,S, PY - 1992/9/1/pubmed PY - 1992/9/1/medline PY - 1992/9/1/entrez SP - 1102 EP - 6 JF - Internal medicine (Tokyo, Japan) JO - Intern Med VL - 31 IS - 9 N2 - 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. SN - 0918-2918 UR - https://www.unboundmedicine.com/medline/citation/1421717/Pentasomy_X_mosaic_in_two_adult_sisters_with_diabetes_mellitus_ L2 - https://joi.jlc.jst.go.jp/JST.Journalarchive/internalmedicine1992/31.1102?from=PubMed DB - PRIME DP - Unbound Medicine ER -