LP207899-8
Chromosome region 7q11.23
Active
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 Name
- Chromosome region 7q11.23
- 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
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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、 |
| es-ES | Spanish (Spain) | Región cromosómica 7q11.23 |
| it-IT | Italian (Italy) | Regione cromosomica 7q11.23 |
| fr-FR | French (France) | Chromosome région 7q11.23 |
| nl-NL | Dutch (Netherlands) | chromosoomgebied 7q11.23 |
| pl-PL | Polish (Poland) | Region chromosomowy 7q11.23 |
| el-GR | Greek (Greece) | Χρωμοσωμική περιοχή 7q11.23 Synonyms: Χρωμοσωμική περιοχή 7q11.23 |
LOINC Copyright
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