Distal monosomy 14 not associated with ring formation

Area of Science:

• Genetics
• Human Molecular Genetics
• Clinical Dysmorphology

Background:

• Congenital heart disease (CHD) and developmental disorders often present with complex genetic etiologies.
• Terminal deletions of chromosome 14 are rare and associated with specific phenotypic features.
• Understanding chromosomal abnormalities is crucial for diagnosing and managing genetic syndromes.

Observation:

• A 12-year-old male presented with congenital heart disease, short stature, dysmorphic facial features, and mild intellectual impairment.
• Genetic analysis revealed a de novo terminal deletion at chromosome 14q32.3.
• The patient's phenotype partially overlaps with previously reported cases of similar deletions but exhibits milder central nervous system (CNS) involvement.

Findings:

• This represents the first reported instance of a terminal deletion 14(q32.3) not associated with ring chromosome 14 formation.
• The deletion occurred de novo, indicating it arose spontaneously in the patient.
• Advanced parental ages and maternal origin of the deleted chromosome were noted, suggesting potential links to parental age-related genetic events.

Implications:

• This case expands the known spectrum of clinical presentations for terminal 14q deletions.
• It highlights the importance of detailed cytogenetic analysis in patients with overlapping phenotypes and congenital anomalies.
• Further research into the specific breakpoint at 14q32.3 may elucidate genotype-phenotype correlations and inform genetic counseling.