Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children

Area of Science:

• Genetics
• Clinical Medicine
• Pediatrics

Background:

• Craniofacial clinics manage complex cases involving genetic and developmental anomalies.
• Chromosomal abnormalities are a significant cause of congenital disorders, including orofacial clefts and intellectual disability.

Observation:

• A case series of three children presenting with orofacial cleft, developmental/intellectual disability, and dysmorphism.
• One child diagnosed with Emanuel syndrome (supernumerary derivative (22)t(11;22)).
• Two children exhibited novel complex chromosomal rearrangements: duplication 4q27q35.2 with deletion 21q22.2q22.3 and duplication 12p13.33p13.32 with deletion 18q22.3q23.

Findings:

• Emanuel syndrome, a known complex small supernumerary marker disorder, was identified in one patient.
• Two previously unreported complex chromosomal rearrangements were observed in the other two patients.
• Maternal balanced translocations were identified as the underlying cause in the two patients with novel rearrangements.

Implications:

• This series expands the known spectrum of chromosomal abnormalities associated with craniofacial and developmental disorders.
• Highlights the importance of detailed cytogenetic analysis in patients with complex phenotypes.
• Identifies novel genetic mechanisms contributing to congenital anomalies, potentially aiding future genetic counseling and diagnosis.