Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.

ABSTRACT:

Background

1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the segment and the number of genes involved. However, patients with 1q43-q44 duplication with a clinical phenotype comparable to that of 1q43-q44 deletion are rarely reported. Moreover, pure 1q43-q44 deletions and duplications derived from balanced insertional translocation within the same family with precisely identified breakpoints have not been reported.

Case presentation

The proband is a 6-year-old girl with profound developmental delay, mental retardation, microcephaly, epilepsy, agenesis of the corpus callosum and hearing impairment. Her younger brother is

SUBMITTER: Luo A 

PROVIDER: S-EPMC5883343 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature