Trisomy 9 syndrome in a neonate with unusual features

الملخص EN

Aim of the Work: To report a newborn infant with multiple congenital anomalies and apparent complete trisomy 9 in the blood.

Review will be included.

Methods: Clinical examination, TORCH screening, echocardiography, skeletal survey, ultrasound head and abdomen were done.

In addition chromosomal analysis of a peripheral blood sample using GTG, CBG banding and FISH techniques were employed.

Results: Multiple congenital anomalies including craniofacial features, central nervous, cardiovascular, skeletal, gastric and urogenital systems because of chromosomal abnormality which indicated: 47, XY, inv (9) (p12;q13) + inv (9) (p12;q13) mat.

Conclusion: Our case could be a new case of apparently complete trisomy 9 syndrome with unusual findings.