Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations

Area of Science:

• Genetics
• Pediatrics
• Developmental Biology

Background:

• Chromosome 1p36 deletion syndrome is a genetic disorder associated with intellectual disability, affecting approximately 1% of affected individuals.
• Clinical manifestations are diverse, including developmental delay, hypotonia, seizures, short stature, intellectual disability, sensory deficits, and congenital anomalies of the heart and kidneys.

Purpose of the Study:

• To report four new cases of 1p36 deletion syndrome diagnosed within a genetic clinic over three years.
• To highlight the variable clinical presentations of 1p36 deletion syndrome in pediatric patients.
• To emphasize the importance of early diagnosis for improved patient management and reproductive counseling.

Main Methods:

• Utilized next-generation sequencing (NGS) for one patient.
• Employed chromosomal microarray analysis (CMA) for another patient.
• Applied multiplex ligation-dependent probe amplification (MLPA) for the remaining two patients.

Main Results:

• Successfully diagnosed four pediatric cases of 1p36 deletion syndrome using distinct genetic testing methodologies.
• Observed significant variability in the clinical phenotypes among the four diagnosed children.
• Confirmed the utility of different genetic techniques in identifying 1p36 deletions.

Conclusions:

• 1p36 deletion syndrome exhibits a wide spectrum of clinical features, necessitating comprehensive diagnostic approaches.
• Early identification of 1p36 deletion syndrome is crucial for accurate prognostication and informed reproductive planning.
• Genetic testing, including NGS, CMA, and MLPA, plays a vital role in diagnosing this condition.