Trisomy 9 syndrome in a neonate with unusual features

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 anal...

Full description

Saved in:
Bibliographic Details
Published in:The Egyptian journal of medical human genetics 2009-11, Vol.10 (2), p.238-242
Main Authors: Abu Henedi, Maha M., Muhammad, Fawziyah M., Masud, Hatim A., Abu al-Hasan, Sawsan J., al-Awadi, Sadika A.
Format: Article
Language:English
Subjects:
Abnormalities, Human
Diseases
Newborn infants
Trisomy
الأمراض
التشوهات الخلقية
الكروموسومات
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1110-8630
2090-2441