LP185774-9
Fetal 1p36 deletion risk
Active
Description
1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 1p36-deletion-syndrome] Source: Regenstrief LOINC, GHR: 1p36 deletion syndrome
Basic Part Properties
- Part Display Name
- Fetal 1p36 deletion risk
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-08-15
- Construct for LOINC Short Name
- 1p36 del risk
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Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | 胎儿 1p36 染色体缺失风险 Synonyms: 胎儿 1p36 染色体缺失(基因缺失、 |
es-ES | Spanish (Spain) | Riesgo de deleción 1p36 |
it-IT | Italian (Italy) | Delezione 1p36 rischio |
tr-TR | Turkish (Turkey) | 1p36 delesyon riski |
nl-NL | Dutch (Netherlands) | risico op foetale 1p36-deletie Synonyms: 1p36 deletie voorafkans bij foetus |
LOINC Copyright
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