Klinefelter's syndrome with 46,XY/47,XXY/48,XXXY mosaicism.

PTEN mosaicism with features of Cowden syndrome.

We present the first known case of somatic PTEN mosaicism causing features of Cowden syndrome (CS) and inheritance in the subsequent generation. A 20-year-old woman presented for genetics evaluation with multiple ganglioneuromas of the colon. On examination, she was found to have a thyroid goiter, macrocephaly, and tongue papules, all suggestive of CS. However, her reported family history was n...

NOD2 mosaicism in Blau syndrome

Introduction Gene mosaicism describes an individual who has developed from a single zygote and has two or more cell types with distinct genotypes. Three major types of mosaicism have been described and are referred as gonadal, somatic and gonosomic mosaicism. They mainly differ on the body distribution of the somatic mutation and in their clinical consequences. The recent use of next-generation...

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

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 ...

Trisomy 3 mosaicism in a patient with Bartter syndrome.

Chromosome Mosaicism in an Indian Child with Down's Syndrome.

Since the first report by Lejeune, Gautier, and Turpin in 1959 of the findings of trisomy 2I and a chromosome number of 47 in Down's syndrome (mongolism), several different chromosomal patterns have been described in patients with this disorder. One of these is chromosome mosaicism. In such cases, the patient may lack some of the features characteristic of the syndrome-and indeed some subjects ...