A novel immunodeficiency syndrome associated with partial trisomy 19p13.

ABSTRACT:

Background

Subtelomeric deletions and duplications may cause syndromic disorders that include features of immunodeficiency. To date, no phenotype of immunological pathology has been linked to partial trisomy 19. We report here on two unrelated male patients showing clinical and laboratory signs of immunodeficiency exhibiting a duplication involving Chromosome 19p13.

Methods

Both patients underwent a detailed clinical examination. Extended laboratory investigations for immune function, FISH and array comparative genome hybridization (CGH) analyses were performed.

Results

The reported patients were born prematurely with intrauterine growth retardation and share clinical features including neurological impairment, facial dysmorphy and urogenital malformations. Array CGH

SUBMITTER: Seidel MG 

PROVIDER: S-EPMC3963557 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature