Masculinized Turner's Syndrome XY/XO Mosaicism
نویسندگان
چکیده
منابع مشابه
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...
متن کاملPTEN 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...
متن کاملSomatic NLRP3 mosaicism in Muckle-Wells syndrome
Introduction Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome are dominantly inherited autoinflammatory diseases associated to gain-of-function NLRP3 mutations. All these diseases are currently considered as different phenotypes of the cryopyrin-associated periodic syndromes (CAPS). A variable de...
متن کاملParthenogenetic 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 ...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1971
ISSN: 0035-9157
DOI: 10.1177/003591577106400330