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Chromosome 9.svg|
ICD-10 | Q92 | |
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ICD-9 | 758 | |
OMIM | [1] | |
DiseasesDB | 32657 | |
MedlinePlus | [2] | |
eMedicine | / | |
MeSH | {{{MeshNumber}}} |
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 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[]
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.[1]
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.
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
- de:Trisomie 9
Chromosomal abnormalities
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Autosomal trisomies: |
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Autosomal monosomies/deletions: |
X/Y linked: |
Translocations: |
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