Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.

ABSTRACT:

Background

Partial deletion of chromosome 21q is a very rare chromosomal abnormality associated with highly variable phenotypes, such as facial dysmorphic features, heart defects, seizures, psychomotor delay, and severe to mild intellectual disability, depending on the location and size of deletions. So far, three broad deletion regions of 21q have been correlated with the clinical phenotype.

Results

We described the clinical and genetic features of three family members (father and two siblings) and other two unrelated patients with very wide range in age of diagnosis. All of them showed intellectual disability with very variable symptoms, from mild to severe, and carried 21q interstitial deletions with different sizes and position, as detected by conventional karyotype and

SUBMITTER: Errichiello E 

PROVIDER: S-EPMC5020505 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature