Complex X chromosome rearrangement associated with multiorgan autoimmunity.

ABSTRACT:

Background

Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome. Turner syndrome is usually associated with short stature, gonadal dysgenesis and variable dysmorphic features. The classical 45,X karyotype accounts approximately for half of all patients, the remainder exhibit mosaicism or structural abnormalities of the X chromosome. However, complex intra-X chromosomal rearrangements involving more than three breakpoints are extremely rare.

Results

We present a unique case of a novel complex X chromosome rearrangement in a young female patient presenting successively a wide range of autoimmune diseases including insulin dependent diabetes mellitus, Hashimoto's thyroiditis, celiac disea

SUBMITTER: Haltrich I 

PROVIDER: S-EPMC4506572 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature