Chromosome Deletion 1q43q44: A Case Review

Area of Science:

• Medical Genetics
• Neonatal Care

Background:

• Chromosome abnormalities are frequently identified in Neonatal Intensive Care Units (NICUs).
• Prenatal diagnosis is not always available, necessitating diagnosis during the neonatal period.
• NICU providers require extensive knowledge of chromosomal disorders to guide families.

Observation:

• This case study focuses on a rare deletion on chromosome 1q43q44.
• This deletion occurs in the subtelomeric region of the long arm of chromosome 1.
• Baby D presented with multiple congenital anomalies.

Findings:

• Baby D was diagnosed with the 1q43q44 deletion.
• This condition involves a specific deletion pattern on chromosome 1.
• The case highlights the clinical presentation of this rare genetic disorder.

Implications:

• Accurate diagnosis of rare chromosome abnormalities is crucial in the NICU.
• Understanding such deletions aids in genetic counseling and family support.
• This case contributes to the literature on 1q43q44 deletions and their impact.