Abnormal hematologic features in a live-born female infant with triploidy

Area of Science:

• Genetics
• Hematology
• Pediatrics

Background:

• Complete trisomy is a rare chromosomal disorder with severe phenotypic abnormalities.
• Hematologic manifestations are not well-characterized in complete trisomy.
• Understanding these features is crucial for comprehensive patient assessment.

Observation:

• A case of a live-born infant with complete trisomy is presented.
• Detailed examination of peripheral blood hematologic features was performed.
• Abnormal physical characteristics of the infant and placenta were also noted.

Findings:

• The study details the specific hematologic abnormalities observed in the peripheral blood of an infant with complete trisomy.
• Associated dysmorphic features and placental abnormalities are described.
• This case contributes to the understanding of the hematologic spectrum in this condition.

Implications:

• This case report expands the knowledge of hematologic complications in complete trisomy.
• It emphasizes the importance of thorough hematologic evaluation in infants with chromosomal anomalies.
• Findings may aid in future diagnostic and management strategies for similar cases.