LP172692-8
4p16.3 chromosome
Active
Description
Wolf-Hirschhorn syndrome is caused by a deletion of the short (p) arm of chromosome 4 (4p-). The size of the deletion varies among affected individuals with larger deletions tending to result in more severe intellectual disability and physical abnormalities than smaller deletions. The signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes on the short arm of chromosome 4, including WHSC1, LETM1, and MSX1. Researchers believe that loss of the WHSC1 gene is associated with many of the characteristic features of Wolf-Hirschhorn syndrome, including the distinctive facial appearance and developmental delay. Deletion of the LETM1 gene appears to be associated with seizures or other abnormal electrical activity in the brain. A loss of the MSX1 gene may be responsible for the dental abnormalities and cleft lip and/or palate that are often seen with this condition. Between 85 and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited. In the remaining cases, an affected individual inherits a copy of 4p- a parent who carries a balanced chromosomal rearrangement between chromosome 4 and another chromosome. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems in the parent. Source: Genetic Home Reference, National Library of Medicine, Wolf-Hirschhorn syndrome
Basic Part Properties
- Part Display Name
- 4p16.3 chromosome
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2013-02-21
- Construct for LOINC Short Name
- 4p16.3
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 4p16.3 染色体 |
| es-ES | Spanish (Spain) | Cromosoma 4p16.3 |
| it-IT | Italian (Italy) | 4p16.3 cromosoma Synonyms: cromosoma 4 in posizione 16 3 |
| tr-TR | Turkish (Turkey) | 4p16.3 kromozom |
| ru-RU | Russian (Russian Federation) | 4p16.3 хромосома |
| nl-NL | Dutch (Netherlands) | 4p16.3-chromosoom |
| pl-PL | Polish (Poland) | Chromosom 4p16.3 Synonyms: Prążek 16.3 krótkiego ramienia chromosomu 4 |
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