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Trisomy 9 is a chromosomal disorder caused by having three copies ( trisomy) of chromosome number 9. It can appear with or without mosaicism.
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.
It can be detected prenatally, such as 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.
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.
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