A case of ring (9)/del(9p) mosaicism associated with gastroesophageal reflux

Area of Science:

• Genetics
• Pediatrics
• Developmental Biology

Background:

• Ring chromosome 9 (r(9)) and 9p deletion (del(9p)) are rare chromosomal abnormalities.
• Mosaicism refers to the presence of two or more cell populations with different genetic makeup within an individual.
• These conditions can lead to a range of developmental abnormalities and health issues.

Observation:

• A male infant presented with a confirmed diagnosis of 46,XY,r(9)(p22;q34)/46,XY,del(9)(p22) mosaicism.
• The infant exhibited significant gastroesophageal reflux, characterized by persistent regurgitation.
• This led to a failure to thrive, indicating poor growth and development.

Findings:

• The study documents a specific case of r(9) and del(9p) mosaicism in a male infant.
• A strong association was observed between this chromosomal abnormality and the development of severe gastroesophageal reflux.
• The persistent regurgitation directly contributed to the infant's failure to thrive.

Implications:

• This case underscores the importance of considering gastroesophageal reflux in infants diagnosed with r(9) and del(9p) mosaicism.
• Early identification and management of reflux may be crucial for improving growth outcomes in affected children.
• Further research into the mechanisms linking chromosomal abnormalities to gastrointestinal dysfunction is warranted.