Chromosome 11q13 deletion syndrome

Area of Science:

• Genetics
• Medical Genetics
• Human Genetics

Background:

• Chromosome 11q13 deletion syndrome, also known as otodental or oculo-oto-dental syndrome, is associated with dental abnormalities and hearing loss.
• The genetic basis involves hemizygous microdeletions, frequently including the FGF3 gene.
• Recent reports describe new phenotypes, including severe deafness and microtia without ocular anomalies.

Purpose of the Study:

• To report a novel case of chromosome 11q13 deletion syndrome in a pediatric patient.
• To characterize the clinical manifestations and genetic findings in this patient.
• To underscore the variable expressivity of 11q13 deletion syndrome.

Main Methods:

• Array-comparative genomic hybridization (aCGH) analysis was performed to detect chromosomal deletions.
• Clinical examination and assessment of developmental milestones were conducted.
• Review of existing literature on 11q13 deletion syndrome and related phenotypes.

Main Results:

• A 2.75 Mb deletion in the chromosome 11q13.2-q13.3 region was identified in the patient.
• The patient presented with ptosis, auricular deformity, high-arched palate, delayed dentition, simian line, microcephaly, and developmental delay.
• This case expands the known spectrum of clinical features associated with 11q13 deletions.

Conclusions:

• Chromosome 11q13 deletions result in a syndrome with diverse clinical presentations.
• Manifestations include craniofacial dysmorphies and developmental issues.
• Patients require thorough hearing, ophthalmic, and dental evaluations for management.