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

K. Yamazawa, K. Nakabayashi, M. Kagami, T. Sato, S. Saitoh, R. Horikawa, N. Hizuka, Tsutomu Ogata

研究成果: Article査読

34 被引用数 (Scopus)


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 epithelial cells. Discussion: The results imply that a parthenogenetic activation took place around the time of fertilisation of a sperm missing a sex chromosome, resulting in the generation of the upid(AC)mat 46,XX cell lineage by endoreplication of one blastomere containing a female pronucleus and the 45,X cell lineage by union of male and female pronuclei. It is likely that the extent of overall (epi)genetic aberrations exceeded the threshold level for the development of SRS phenotype, but not for the occurrence of other imprinting disorders or recessive Mendelian disorders.

ジャーナルJournal of medical genetics
出版ステータスPublished - 2010 11月

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)


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