Trisomy 9 syndrome in a neonate with unusual features

Abstract

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.

Key Words: Trisomy 9, congenital anomalies, karyotype, FISH