Version 2.78

Descriptions

A deletion on the 7q11.23 chromosomal region is found in approximately 90-95% of patients with classical Williams-Beuren Syndrome (WBS).[NCBI Books: NBK1249] The WBS critical region (WBSCR) can also be duplicated in patients with 7q11.23 Duplication Syndrome.[OMIM: 609757] Source: Regenstrief LOINC

The 7q11.23 chromosome region is known as the critical region for Williams-Beuren syndrome (WBS), a contiguous gene deletion syndrome cause by a 1.5 to 1.8 Mb hemizygous deletion in this chromosome region containing approximately 28 genes.[OMIM: 194050] WBS is a multisystem disorder with highly variable medical problems, variable developmental delay, and characteristic facial features. Young children have a pixie like-face, with a flat nasal bridge, short upturned nose, periorbital puffiness, and long philtrum, whereas older patients have slightly coarse features, with full lips, a wide smile, and a full nasal tip. PMID: 20089974 Another condition known as the 7q11.23 duplication syndrome is caused by a duplication of genes within the 7q11.23 chromosome region. It is also a multisystem developmental disorder with variable manifestations, most commonly speech delay and mild craniofacial anomalies.[OMIM: 609757] Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
Chromosome region 7q11.23
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-02-28
Construct for LOINC Short Name
Chr 7q11.23

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP207899-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 染色体区域 7q11.23
Synonyms: 染色体区域（染色体部位、染色体区、染色体区带、染色体部） 7q11.23
es-ES Spanish (Spain) Región cromosómica 7q11.23
it-IT Italian (Italy) Regione cromosomica 7q11.23
nl-NL Dutch (Netherlands) chromosoomgebied 7q11.23
pl-PL Polish (Poland) Region chromosomowy 7q11.23