LP207873-3
Chromosome region 11p15
Active
Description
The chromosome 11p15 region contains a large cluster of imprinted genes, including H19 (maternally expressed), KCNQ1OT1 (paternally expressed), IGF2 (paternally expressed), and CDKN1C (maternally expressed). Expression of these genes is controlled by 2 imprinting centers (IC), IC1 and IC2. Genetic or epigenetic alterations within the genes or the imprinting centers of the 11p15 region cause Beckwith-Wiedemann syndrome (BWS), a clinically heterogeneous overgrowth syndrome associated with neonatal hypoglycemia, congenital malformations, and an increased risk for embryonal tumor development. The clinical presentation of BWS is dependent on which genes are involved.[NCBI Books: NBK1394] [OMIM: 130650] Alterations in the 11p15 chromosome region also cause Russell-Silver syndrome (RSS), a genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, characteristic facies, and asymmetry of the face, body, and/or extremities.[OMIM: 180860] Hypomethylation of the paternal IC1 is identified in 35%-50% of individuals with RSS.[NCBI Books: NBK1324] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Chromosome region 11p15
- Part Display Name
- Chromosome region 11p15
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-02-27
- Construct for LOINC Short Name
- Chr 11p15
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 染色体区域 11p15 Synonyms: 染色体区域（染色体部位、 |
| es-ES | Spanish (Spain) | Región cromosómica 11p15 |
| it-IT | Italian (Italy) | Regione cromosomica 11p15 |
| fr-FR | French (France) | Chromosome région 11p15 |
| nl-NL | Dutch (Netherlands) | chromosoomgebied 11p15 |
| pl-PL | Polish (Poland) | Region chromosomowy 11p15 |
| el-GR | Greek (Greece) | Χρωμοσωμική περιοχή 11p15 Synonyms: Χρωμοσωμική περιοχή 11p15 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://