Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes

Area of Science:

• Genetics
• Clinical Genetics
• Developmental Biology

Background:

• Monosomy 1p36 deletion syndrome is characterized by developmental delay, hypotonia, short stature, and craniofacial dysmorphisms.
• Understanding the genotype-phenotype correlation is crucial for managing this condition.

Purpose of the Study:

• To review reported cases of 1p36 deletion between 1999 and 2014.
• To investigate the correlation between the size of the 1p36-deleted segment and the clinical phenotype.

Main Methods:

• Systematic literature search of PubMed and SciELO databases for articles on 1p36 deletion.
• Inclusion criteria focused on case reports and series describing genotype-phenotype correlations, excluding reviews and studies with animal models.
• Analysis of 17 articles comprising 29 patients meeting the study's criteria.

Main Results:

• A total of 29 patients with 1p36 deletions were analyzed.
• The study observed significant variability in clinical manifestations, even with deletions of similar sizes.
• No consistent association was found between the size of the deleted segment and the severity of clinical features.

Conclusions:

• The genotype-phenotype correlation in monosomy 1p36 deletion is complex and challenging to establish.
• Clinical severity is not solely determined by deletion size, indicating the influence of other genetic or epigenetic factors.
• Further research is needed to elucidate the mechanisms underlying the variable clinical presentation.