Trisomy 9

Trisomy 9

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

ymptoms

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.

Detection

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. [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]

References

External links

* [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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