73749-4
4p16.3 chromosome deletion [Identifier] in Blood or Tissue by FISH Nominal
Active
Term Description
FISH studies are performed to detect a deletion on the short arm of chromosome 4 (4p16.3) in patients, primarily newborns, suspected of having Wolf-Hirschhorn syndrome (WHS). FISH signal pattern indicating a loss of 4p16.3 is consistent with a diagnosis of WHS.
Source: Regenstrief LOINC
Part Descriptions
LP172692-8 4p16.3 chromosome
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
LP62864-1 FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues.
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Source: Wikipedia, FISH
Fully-Specified Name
- Component
- 4p16.3 chromosome deletion
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- FISH
Additional Names
- Short Name
- 4p16.3 Del Bld/T FISH
- Display Name
- 4p16.3 chromosome del FISH Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- 4p16.3 chromosome deletion analysis, Blood or tissue specimen
Example Answer List: LL2480-3
Source: Regenstrief LOINC| Answer | Code | Score | Answer ID |
|---|---|---|---|
| ish 4p16.3(WHSx2) | LA19941-6 | ||
| ish del(4)(p16.3p16.3)(WHS-) | LA19937-4 |
Basic Attributes
- Class
- MOLPATH.DEL
- Type
- Laboratory
- First Released
- Version 2.44
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cromosoma 4p16.3 Deleción: |
| es-MX | Spanish (Mexico) | Deleción del cromosoma 4p16.3: |
| fr-FR | French (France) | Chromosome délétion 4p16.3: |
| it-IT | Italian (Italy) | 4p16.3 cromosoma Delezione: Synonyms: cromosoma 4 in posizione 16 3 Delezione genetica Ibridazione in situ fluorescente (FISH) Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | 4p16.3-chromosoom deletie: |
| pl-PL | Polish (Poland) | Chromosom 4p16.3 delecja: Synonyms: Delecja prążka 16.3 krótkiego ramienia chromosomu 4 Prążek 16.3 krótkiego ramienia chromosomu 4 |
| pt-BR | Portuguese (Brazil) | 4p16.3 cromossomo deleção: |
| tr-TR | Turkish (Turkey) | 4p16.3 kromozom delesyon: |
| zh-CN | Chinese (China) | 4p16.3 染色体 缺失: Synonyms: Fluorescent in situ hybridization; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=73749-4
LOINC Copyright
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