Version 2.78

Description

Rubinstein-Taybi syndrome is an autosomal dominant condition that has been linked with various genetic variants. Some cases of Rubinstein-Taybi are due to deletions in the 16p chromosome region, which deletion includes the loss of the CREBBP gene. The CREBBP gene encodes CREB binding protein, which helps regulate cell growth and division and is essential for normal fetal development. A small percentage are caused by mutations in the EP300 gene, located on chromosome 22q13.2, which also plays a role in fetal growth and development. This syndrome is associated with short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes, and some patients may also have eye abnormalities, heart and kidney defects, dental problems, and obesity. Patients with Rubinstein-Taybi are at increased risk of developing noncancerous and cancerous tumors, including certaintypes of brain tumors and leukemia. Infants born with a severe form of this disorder usually only survive until early childhood. Rubinstein-Taybi syndrome occurs in approximately 1 in 100,000 to 125,000 live births. [MedlinePlus Condition: rubinstein-taybi-syndrome] Source: Regenstrief LOINC, GHR Condition: Rubinstein-Taybi syndrome

Basic Part Properties

Part Display Name
Chromosome region 16p13.3
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-03-30
Construct for LOINC Short Name
Chr 16p13.3

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208592-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 染色体区域 16p13.3
Synonyms: 染色体区域（染色体部位、染色体区、染色体区带、染色体部） 16p13.3
es-ES Spanish (Spain) Región cromosómica 16p13.3
it-IT Italian (Italy) Regione cromosomica 16p13.3
nl-NL Dutch (Netherlands) chromosoomgebied 16p13.3
pl-PL Polish (Poland) Region chromosomowy 16p13.3