A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features

Area of Science:

• Genomics
• Clinical genetics
• Human genetics

Background:

• 5q11.2 Deletion is a rare genomic disorder.
• The clinical phenotype associated with 5q11.2 Deletion is not well-characterized.
• Understanding rare genomic disorders is crucial for diagnosis and management.

Observation:

• This report describes a patient with an 8.6 Mb deletion at the 5q11.2 chromosomal region.
• The patient presented with hypotonia and mild developmental delay.
• Distinctive dysmorphic features were noted, including frontal bossing, a square face, deep-set eyes, prominent columella, long philtrum, and thin lips.

Findings:

• The identified 8.6 Mb deletion at 5q11.2 is linked to a specific set of clinical features.
• The phenotype includes hypotonia, mild developmental delay, short stature, and characteristic facial anomalies.
• This case contributes to the limited knowledge of the 5q11.2 Deletion syndrome.

Implications:

• This detailed case report expands the phenotypic description of 5q11.2 Deletion.
• It aids in recognizing and diagnosing this rare condition in future patients.
• Further research into 5q11.2 deletions can improve understanding of genotype-phenotype correlations.