What question did this study set out to answer?

To highlight the unique complications associated with trisomy 9 mosaicism, particularly severe pulmonary issues.

April 10, 2026Open Access

Trisomy 9 mosaicism: a genetic disorder with complications—a case report

Key Points

To highlight the unique complications associated with trisomy 9 mosaicism, particularly severe pulmonary issues.
Case report detailing clinical interventions and outcomes.
Assessment of complications including micrognathia and pulmonary hypertension.
Evaluation of neonatal care strategies for management.
Documented severe pulmonary hypertension requiring patent ductus arteriosus closure.
Unique presentation of micrognathia needing surgical distraction.
Highlighted improved survival outcomes with advanced neonatal care.

Abstract

This case is unique for several reasons: micrognathia requiring distraction, absent external ears, severe pulmonary hypertension requiring patent ductus arteriosus closure, and long-term oxygen therapy. To our knowledge, this is the first reported trisomy 9 mosaicism case with such a severe pulmonary hypertensive crisis necessitating aggressive intervention. Although historically associated with poor outcomes, improved neonatal care contributes to increasing survival in infants with trisomy 9 mosaicism.

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Discussion

Authors

Maher Ajour

Danielle Bryant

Brooke McKnight

Journals

Journal of Medical Case Reports

Actions

Institutions

University of Mississippi Medical Center

Jackson Memorial Hospital

References and Citations

Connected Papers

Building similarity graph...

Analyzing shared references across papers

Trisomy 9 mosaicism: a genetic disorder with complications—a case report

Key Points

Abstract

Citation Network

Connected Papers

Discussion

Authors

Journals

Actions

Institutions

References and Citations

Citation Network

Connected Papers

Discussion

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