PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW

Area of Science:

• Genetics
• Developmental Biology
• Clinical Medicine

Background:

• Dichorionic-diamniotic twins present unique genetic and developmental considerations.
• Chromosomal abnormalities can lead to a wide spectrum of congenital anomalies.

Observation:

• A term dichorionic-diamniotic twin presented with intrauterine growth retardation and numerous anomalies.
• Key genetic findings included deletion of chromosome 13q and partial trisomy of chromosome 4p.

Findings:

• The patient exhibited microcephaly, colpocephaly, absent corpus callosum, cardiac defects (double outlet right ventricle, septal defects, pulmonary stenosis), renal dysplasia, and other dysmorphic features.
• This case represents the first reported instance of combined partial trisomy 4p and partial monosomy 13q.

Implications:

• This case expands the understanding of genotype-phenotype correlations for trisomy 4p and monosomy 13q.
• Highlights the complexity of diagnosing and managing multiple congenital anomalies in twins.
• Emphasizes the importance of comprehensive genetic analysis in cases of intrauterine growth retardation and congenital malformations.