Morphological and genetic abnormalities in a Jacobsen syndrome

Area of Science:

• Genetics
• Pediatrics
• Clinical Case Study

Background:

• Jacobsen syndrome (JS) is a rare contiguous gene syndrome resulting from deletions on chromosome 11q23.3-q23.4.
• Limited data exists on the pubertal development and long-term clinical course of individuals with JS.
• This report focuses on a unique case with late-onset hematological and immunological manifestations.

Observation:

• A 22-year-old female with JS, diagnosed in infancy, presented with intrauterine growth retardation, failure to thrive, motor skill delays, and severe learning difficulties.
• Distinctive facial and limb abnormalities, spasticity, and behavioral issues were noted.
• Pubertal development was marked by hypogenitalism and primary amenorrhea, with late-onset thrombocytopenia and IgM deficiency.

Findings:

• Array comparative genomic hybridization (aCGH) confirmed a 16.3 Mb deletion on chromosome 11q23.3-q23.4.
• This case represents the first documented instance of JS in Romania.
• The patient exhibited a prolonged survival period with late-emerging hematological and immunological complications.

Implications:

• This case expands the understanding of the clinical spectrum and long-term prognosis of Jacobsen syndrome.
• It underscores the importance of comprehensive monitoring, including pubertal, hematological, and immunological assessments, in individuals with JS.
• The findings contribute valuable data for genetic counseling and management strategies for JS patients.