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 musculoskeletalsystem may also occur.
Trisomy 9 can be detected prenatally with
chorionic villus samplingand 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 karyotypingfor diagnosis. [cite journal |author=Stipoljev F, Kos M, Kos M, Miskovi B, Matijevic R, Hafner T, Kurjak A |title=Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review |journal=J Matern Fetal Neonatal Med |volume=14 |issue=1 |pages=65–9 |year=2003 |pmid=14563095 |doi=10.1080/713605935]
* [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Chromosome%209%2C%20Trisomy%209p%20(Multiple%20Variants) NORD - National Organization for Rare Disorders, Inc.] Chromosome 9, Trisomy 9p (Multiple Variants)
* [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Chromosome%209%2C%20Trisomy%20Mosaic NORD - National Organization for Rare Disorders, Inc.] Chromosome 9, Trisomy Mosaic
* [http://www.maggiblair.com MaggiBlair.com] Maggi Blair - Trisomy 9 Mosaic Syndrome
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