title: 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.affiliation: Department of Internal Medicine, Kanazawa Medical University, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Nakano
authors.forename: A
authors.initials: A
authors.lastname: Sasame
authors.forename: S
authors.initials: S
authors.lastname: Azukizawa
authors.forename: T
authors.initials: T
authors.lastname: Kigoshi
authors.forename: K
authors.initials: K
authors.lastname: Uchida
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.forename: S
authors.initials: S
authors.lastname: Morimoto
mesh_terms: D000782:Aneuploidy; D003924:Diabetes Mellitus, Type 2 / Q000150:complications; D005192:Family Health; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D012729:Sex Chromosome Aberrations; D014960:X Chromosome