Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.

ABSTRACT:

Introduction

We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX).

Methods/results

Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIST-DMR on the X chromosome and genome-wide microsatellite analysis for 96 autosomal loci and 30 X chromosomal loci revealed that the 46,XX cell lineage was accompanied by maternal uniparental isodisomy for all chromosomes (upid(AC)mat), whereas the 45,X cell lineage was associated with biparentally derived autosomes and a maternally derived X chromosome. The frequency of the 46,XX upid(AC)mat cells was calculated as 84% in leukocytes, 56% in salivary cells, and 18% in buccal epitheli

SUBMITTER: Yamazawa K 

PROVIDER: S-EPMC2976035 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature