An emerging phenotype of proximal 11q deletions

Area of Science:

• Genetics
• Developmental Biology
• Clinical Medicine

Background:

• Small interstitial deletions of chromosome 11q are rare with poorly defined genotype-phenotype correlations.
• Understanding these deletions is crucial for diagnosing genetic disorders and developmental abnormalities.

Observation:

• A five-year-old boy exhibited ptosis, iris coloboma, and developmental delay.
• Distinct dysmorphic features included low frontal hairline, flat profile, round face, full cheeks, periorbital fullness, hypertelorism, broad nasal bridge, and down-turned mouth corners.
• Array comparative genomic hybridization (array-CGH) identified a 1 Mb deletion on chromosome 11q13.5q14.2.

Findings:

• The patient's deletion at 11q13.5q14.2 aligns with previously reported proximal 11q deletions.
• Shared features with prior cases include developmental delay and specific dysmorphic characteristics.
• This case adds to the limited literature on small interstitial 11q deletions.

Implications:

• The consistent clinical and cytogenetic similarities suggest an emerging syndrome associated with proximal 11q deletions.
• Further research is warranted to delineate the spectrum of this potential syndrome.
• Accurate diagnosis through genetic analysis aids in genetic counseling and management of affected individuals.