Trisomy 9

From Wikipedia, the free encyclopedia

Trisomy 9 Classification and external resources
Chromosome 9
ICD-10	Q92.
ICD-9	758
DiseasesDB	32657
MeSH	D014314

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

Contents 1 Symptoms 2 Detection 3 References 4 External links

[edit] 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.

[edit] 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.^[1]

[edit] References

1. ^ 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. doi:10.1080/713605935. PMID 14563095. 

[edit] External links

• NORD - National Organization for Rare Disorders, Inc. Chromosome 9, Trisomy 9p (Multiple Variants)
• NORD - National Organization for Rare Disorders, Inc. Chromosome 9, Trisomy Mosaic

v • d • e Pathology: chromosome abnormalities (Q90-Q99, 758) Autosomal trisomies Down syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22), Trisomy 22, Trisomy 16 Autosomal monosomies/deletions Wolf-Hirschhorn syndrome (4), Cri du chat (5), Williams syndrome (7), Angelman syndrome/Prader-Willi syndrome (15), Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22) X/Y linked Monosomy: Turner syndrome (XO) Trisomy: Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY Other Karyotypes: XXXX, XXYY, XXXXX, XXXXY Translocations Philadelphia chromosome, Burkitt's lymphoma Other Fragile X syndrome, Gonadal dysgenesis (Mixed gonadal dysgenesis)