Version 2.78

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 Display Name
Chromosome region Yp11.3 deletion AndOr rearrangement
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-04-27
Construct for LOINC Short Name
Chr Yp11.3 Del +or Rearr

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP212158-2

Language Variants Get Info

Tag Language Translation
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、染色体区、染色体区带、染色体部） Yp11.3 缺失和或重排
es-ES Spanish (Spain) Deleción y/o reordenamiento de la región cromosómica Yp11
it-IT Italian (Italy) Delezione & o riarrangiamenti della regione cromosomica Yp11.3
Synonyms: Delezione e/o riarrangiamenti della regione cromos
pl-PL Polish (Poland) Delecja i/lub rearanżacja regionu chromosomowego Yp11.3