LP212158-2
Chromosome region Yp11.3 deletion &or rearrangement
Active
Description
Chromosome region Yp11.3 contains the SRY gene [HGNC Gene ID: 11311], which codes for the sex-determining region Y protein. The SRY protein [UniProt: Q05066] is a transcription factor that initiates male sexual development. Translocation of the SRY gene to the X chromosome causes 46, XX males. The fetus carrying the SRY gene on an X chromosome will develop male characteristics despite not having a Y chromosome. Deletion or mutations in the SRY gene leads to 46, XY females with either normal female external genitalia or ambiguous genitalia.[NCBI Books: NBK1547] Patient's with Turner syndrome (45, X) may also be tested to determine if Y chromosome material, including the SRY gene, is present. PMID: 20512293 Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Chromosome region Yp11.3 deletion &or rearrangement
- Part Display Name
- Chromosome region Yp11.3 deletion AndOr rearrangement
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-04-26
- Construct for LOINC Short Name
- Chr Yp11.3 Del +or Rearr
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | Delezione & o riarrangiamenti della regione cromosomica Yp11.3 Synonyms: Delezione e/o riarrangiamenti della regione cromos |
| zh-CN | Chinese (China) | 染色体区域 Yp11.3 缺失和或重排 Synonyms: 染色体区域（染色体部位、 |
| es-ES | Spanish (Spain) | Deleción y/o reordenamiento de la región cromosómica Yp11 |
| pl-PL | Polish (Poland) | Delecja i/lub rearanżacja regionu chromosomowego Yp11.3 |
| el-GR | Greek (Greece) | Διαγραφή και/ή αναδιάταξη χρωμοσωμικής περιοχής Yp11.3 Synonyms: Διαγραφή και/ή αναδιάταξη χρωμοσωμικής περιοχής Yp11.3 |
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