Monosomy 18p with Unbalanced Translocation Between 13 and 18 Chromosomes: First Reported Case in Serbia.

Area of Science:

• Genetics
• Cytogenetics
• Pediatrics

Background:

• Monosomy 18p is a chromosomal disorder caused by deletion of the 18p short arm.
• Rare cases involve whole-arm deletions due to 13;18 translocations.
• Clinical features include dysmorphism, intellectual disability, and short stature.

Observation:

• A one-year-old girl presented with monosomy 18p due to a 45, XX, t(13;18) (q12:p11.2) unbalanced translocation.
• The patient exhibited facial dysmorphism, stunted growth, and hypotonia.
• Thyroxine supplementation was initiated early in life.

Findings:

• This case represents the first documented instance of astigmatism in a patient with 18p monosomy resulting from a 13;18 whole-arm translocation.
• The patient's phenotype expands the known clinical spectrum of this rare chromosomal abnormality.

Implications:

• This case underscores the importance of cytogenetic testing for diagnosing rare chromosomal disorders like monosomy 18p.
• Understanding the full phenotypic spectrum is crucial for comprehensive patient management and genetic counseling.
• Further research into 13;18 translocations can elucidate genotype-phenotype correlations.