LP208545-6
Chromosome region Xp22.33 &or Yp11.32
Active
Description
Xp22.33 and Yp11.32 regions of the sex chromosomes contain the pseudoautosomal region 1 (PAR1), a homologous region between the X & Y chromosomes that is paired at male meiosis and undergoes recombination. The PAR1 region contains at least 24 genes, including the SHOX (short stature homeobox-containing) gene. PMID: 22071895 Deletions or duplications in the SHOX gene or its regulatory regions are known to cause disorders associated with short stature, including Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and Idiopathic short stature (ISS). PMID: 21325865 Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- Chromosome region Xp22.33 AndOr Yp11.32
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-24
- Construct for LOINC Short Name
- Xp22.33 +or Yp11.32
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 染色体区域 Xp22.33 和或 Yp11.32 Synonyms: 染色体区域（染色体部位、 |
| es-ES | Spanish (Spain) | Región cromosómica Xp22.33 y/o Yp11.32 |
| it-IT | Italian (Italy) | Regione cromosomica Xp22.33 &or Yp11.32 |
| nl-NL | Dutch (Netherlands) | chromosoomgebied Xp22.33 en/of Yp11.32 |
| pl-PL | Polish (Poland) | Region chromosomu Xp22.33 &lub Yp11.32 Synonyms: Region chromosomu Xp22.33 i/lub Yp11.32 |
LOINC Copyright
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