A female infant with monosomy 21

Area of Science:

• Genetics
• Human Chromosomal Abnormalities
• Pediatric Medicine

Background:

• Total monosomy 21 is a rare chromosomal disorder.
• Understanding its clinical manifestations is crucial for diagnosis and management.

Observation:

• A female infant presented with total monosomy 21, identified via Q banding.
• Clinical features included hypertonia, prominent occiput, hypertelorism, antimongoloid eye slant, and a broad nose.

Findings:

• The infant exhibited specific dermatoglyphic patterns.
• Both parents were phenotypically and karyotypically normal, suggesting a de novo chromosomal event.

Implications:

• This case contributes to the understanding of total monosomy 21 phenotypes.
• Further research is needed to elucidate the full spectrum and long-term outcomes of this condition.