Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features

Area of Science:

• Genetics
• Clinical Medicine
• Developmental Biology

Background:

• Ring chromosome 2 (r(2)) is a rare chromosomal abnormality.
• Associated phenotypes can include growth restriction and dysmorphic features.
• Accurate diagnosis requires advanced cytogenetic analysis.

Purpose of the Study:

• To report a case of r(2) in a child with specific clinical features.
• To characterize the molecular basis of the r(2) abnormality using chromosomal microarray analysis.
• To compare the patient's phenotype with previously reported cases of r(2).

Main Methods:

• Clinical examination and phenotypic assessment of the patient.
• Chromosome microarray analysis (CMA) to detect chromosomal aberrations.
• Molecular cytogenetics to define the exact chromosomal regions involved.

Main Results:

• The patient presented with intrauterine growth restriction (IUGR), failure to thrive, microcephaly, and dysmorphic facial features.
• CMA revealed two deletions: 2p25.3 (139 kb) and 2q37.3 (147 kb).
• The observed phenotype closely matched previously documented cases of ring chromosome 2.

Conclusions:

• Ring chromosome 2 can lead to significant developmental challenges, including IUGR and microcephaly.
• CMA is crucial for precisely identifying deletions associated with r(2) and its phenotypic consequences.
• This case adds to the understanding of the r(2) phenotype and its genetic underpinnings.