Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.

ABSTRACT:

Rationale

Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability.

Patient concerns and diagnosis

We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb 1q43q44 deletion/21q22.2q22.3 duplication. Among other features, cognitive and motor development delay and craniofacial anomalies are present in both patients, whereas congenital heart defect and hearing impairment is only present in patient carrying 1q43q44 duplication/21q22.2q22.3 deletion.

Lessons

In this report, we provide detailed analysis of the phenotypic features of both pati

SUBMITTER: Aleksiuniene B 

PROVIDER: S-EPMC5406054 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature