Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Trisomy 9
Introduction
Synonyms and keywords:
Overview
Overview
Trisomy 9 is a chromosomal disorder caused by having three copies (trisomy) of chromosome number 9. It can appear with or without mosaicism.
Symptoms
Symptoms
Symptoms vary, but usually result in dysmorphisms in the skull, nervous system, and mental retardation. Dysmorphisms in the heart, kidneys, and musculoskeletal system may also occur.
Diagnosis
Diagnosis
Laboratory Findings
Trisomy 9 can be detected prenatally with chorionic villus sampling and cordocentesis, and can be suggested by obstetric ultrasonography.
Because trisomy 9 may appear with mosaicism, it is suggested that doctors take samples from multiple tissues when karyotyping for diagnosis.[1]
References
References
- ↑ Stipoljev F, Kos M, Kos M, Miskovi B, Matijevic R, Hafner T, Kurjak A (2003). “Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review”. J Matern Fetal Neonatal Med. 14 (1): 65–9. PMID 14563095.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]