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Clinical manifestations in trisomy 9 mosaicism
Ljiljana Pejcic1, Tatijana Stankovic1, Marija Ratkovic-Jankovic1
1Clinic of Children's Internal Diseases, Clinical Center Niš, Niš, Serbia.
The Turkish Journal of Pediatrics
|August 1, 2019
Summary
Trisomy 9 mosaicism presents with significant clinical features including growth retardation and facial asymmetry. This case highlights key manifestations from birth to six months, aiding in understanding this rare chromosomal abnormality.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- Trisomy 9 is a rare chromosomal abnormality with mosaic and non-mosaic forms.
- Clinical features can be similar between mosaic and non-mosaic trisomy 9.
Observation:
- A male infant with mosaic trisomy 9 was observed from birth to six months.
- Clinical manifestations included growth retardation, facial dysmorphism (hemi-facial hypoplasia, asymmetry), single palmar crease, and foot deformities (retrocalcaneovalgus).
Findings:
- The patient exhibited an atrial septal defect, undescended testes, and hypospadias.
- Neurological findings included seizures and severe ventriculomegaly with poorly differentiated brain parenchyma on ultrasound.
Implications:
- This case adds to the literature on clinical manifestations of trisomy 9 mosaicism.
- Comparing these findings with previously reported cases aids in better diagnosis and management.
- Understanding the spectrum of clinical features is crucial for genetic counseling and patient care.
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