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Mosaic trisomy 9 hematopoietic chimera.

Kristina B DeLoache¹, Wanda T Bradshaw

¹Duke University School of Nursing, Durham, North Carolina.

Advances in Neonatal Care : Official Journal of the National Association of Neonatal Nurses

|May 27, 2014

Summary

A rare case of mosaic trisomy 9 was identified in an infant presenting with two distinct blood types. This genetic condition highlights the importance of genetic investigation in infants, even without apparent physical abnormalities.

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Area of Science:

Genetics
Pediatrics
Hematology

Background:

Infant presented with intrauterine growth restriction at 32 weeks gestation.
Pregnancy was uncomplicated, with no major anomalies noted.
At one month, infant exhibited chimerism for blood types O and A.

Observation:

Genetic testing revealed mosaic trisomy 9.
This genetic anomaly explained the presence of two distinct blood types.
The infant showed no phenotypic presentation of trisomy 9.

Findings:

Mosaic trisomy 9 was the underlying cause of blood type chimerism.
The genetic diagnosis was made after a clinical issue arose.
This case underscores the potential for hidden genetic conditions.

Implications:

Phenotypically normal infants may harbor underlying genetic issues.
Genetic investigation is crucial when unexpected clinical findings emerge.
Highlights the need for comprehensive genetic screening in neonatology.