De novo partial 2p duplication with postmortem description

Area of Science:

• Genetics
• Developmental Biology
• Pathology

Background:

• Karyotypic abnormalities can lead to significant congenital malformations.
• Chromosome 2 abnormalities are associated with various developmental disorders.

Purpose of the Study:

• To report a case of a newborn with a partial duplication of chromosome 2 short arm (2p13-pter).
• To correlate the genetic finding with clinical and pathological features.

Main Methods:

• Karyotyping of the infant.
• Parental karyotyping to rule out translocation.
• Autopsy and histopathological examination of the infant.

Main Results:

• The infant presented with intrauterine growth retardation, facial dysmorphism, skeletal, and cardiac abnormalities.
• Karyotype revealed an unbalanced chromosomal constitution with a partial duplication of 2p13-pter.
• No parental translocation was identified.
• Autopsy showed significant histopathological abnormalities in the central nervous system and ovaries.

Conclusions:

• Partial duplication of 2p13-pter is associated with a distinct phenotype including growth retardation and multiple congenital anomalies.
• The genetic imbalance likely impacts multiple organ systems, including the CNS and gonads.
• This case highlights the importance of detailed genetic analysis in infants with complex congenital abnormalities.