Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

Area of Science:

• Genetics and Molecular Biology
• Clinical Genetics
• Developmental Biology

Background:

• Ring chromosome 4 is a rare chromosomal abnormality associated with a spectrum of congenital anomalies.
• Previous studies have described cases with ring chromosome 4 and related conditions like Wolf-Hirschhorn syndrome (4p-).
• Understanding the full phenotypic spectrum is crucial for diagnosis and management.

Purpose of the Study:

• To describe a novel case of a female infant with a de novo ring chromosome 4.
• To compare the clinical features of this patient with previously reported cases of ring chromosome 4 and 4p-.
• To broaden the understanding of the phenotypic variability associated with ring chromosome 4.

Main Methods:

• Clinical case description of a preterm infant with intrauterine growth retardation and multiple congenital anomalies.
• Karyotyping performed on the patient revealed a de novo 46,XX,r(4)(p15.3q35) karyotype.
• Comparative analysis of the patient's phenotype with 17 previously reported cases of ring chromosome 4 and Wolf-Hirschhorn syndrome.

Main Results:

• The patient presented with facial dysmorphism, microcephaly, limb deformities, and cardiovascular and urinary system abnormalities.
• Clinical features were consistent with the consensus phenotype of ring chromosome 4.
• The presence of patent ductus arteriosus and bilateral talipes equinovarus in this case expands the known phenotypic spectrum.

Conclusions:

• This case highlights the significant variability in clinical presentation associated with ring chromosome 4.
• The identification of new features like patent ductus arteriosus and talipes equinovarus contributes to a more comprehensive understanding of the condition.
• Accurate genetic diagnosis and phenotypic characterization are essential for managing patients with ring chromosome 4.