Trisomy 9: Difference between revisions
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==Overview== | ==Overview== | ||
'''Trisomy 9''' is a [[Genetic disorder|chromosomal disorder]] caused by having three copies ([[Aneuploidy#trisomy|trisomy]]) of [[chromosome number 9]]. It can appear with or without [[mosaicism]]. | '''Trisomy 9''' is a [[Genetic disorder|chromosomal disorder]] caused by having three copies ([[Aneuploidy#trisomy|trisomy]]) of [[chromosome number 9]]. It can appear with or without [[mosaicism]]. | ||
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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. | 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. | ||
== | ==Diagnosis== | ||
===Laboratory Findings=== | |||
Trisomy 9 can be [[Prenatal diagnosis|detected prenatally]] with [[chorionic villus sampling]] and [[cordocentesis]], and can be suggested by [[obstetric ultrasonography]]. | Trisomy 9 can be [[Prenatal diagnosis|detected prenatally]] with [[chorionic villus sampling]] and [[cordocentesis]], and can be suggested by [[obstetric ultrasonography]]. | ||
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{{Chromosomal abnormalities}} | {{Chromosomal abnormalities}} | ||
[[de:Trisomie 9]] | [[de:Trisomie 9]] | ||
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{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
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[[Category:Genetic disorders]] | |||
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Latest revision as of 17:07, 20 August 2012
| Trisomy 9 | |
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| Chromosome 9 | |
| ICD-10 | Q92 |
| ICD-9 | 758 |
| DiseasesDB | 32657 |
| MeSH | D014314 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords:
Overview
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.
Diagnosis
Laboratory Findings
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]
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.