Version 2.77

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. LOINC codes with a Scale of "Doc" can be used for the order and to represent the overall report and collection of results (clinical indication, method, overall findings, ISCN result, interpretation, etc.).
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. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

Fully-Specified Name

Component
4p16.3 chromosome deletion
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
FISH

Additional Names

Short Name
4p16.3 Del Bld/T FISH
Display Name
4p16.3 chromosome del FISH Doc (Bld/Tiss)
Consumer Name Alpha Get Info
4p16.3 chromosome deletion analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.69
Last Updated
Version 2.69
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Cromosoma 4p16.3 Deleción:Hallazgo:Punto temporal:Sangre o tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Deleción del cromosoma 4p16.3:Hallazgo:Punto temporal:Sangre o tejido:Documento:Hibridación fluorescente in situ (FISH)
fr-FR French (France) Chromosome délétion 4p16.3:Recherche:Ponctuel:Sang/Tissu:Document:FISH
it-IT Italian (Italy) 4p16.3 cromosoma Delezione:Osservazione:Pt:Sangue/Tess:Doc:FISH
Synonyms: cromosoma 4 in posizione 16 3 Delezione o duplicazione genica Ibridazione in situ fluorescente (FISH) Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) 4p16.3-chromosoom deletie:bevinding:moment:bloed of weefsel:document:FISH
pl-PL Polish (Poland) Chromosom 4p16.3 delecja:wynik:punkt w czasie:krew lub tkanka:dokument:fluorescencyjna hybrydyzacja in situ (FISH)
Synonyms: Delecja prążka 16.3 krótkiego ramienia chromosomu 4 Prążek 16.3 krótkiego ramienia chromosomu 4
tr-TR Turkish (Turkey) 4p16.3 kromozom delesyon:Bulgu:Zmlı:Kan/Dk:Dokm:FISH
zh-CN Chinese (China) 4p16.3 染色体 缺失:发现:时间点:全血/组织:文档型:FISH
Synonyms: Fluorescent in situ hybridization;荧光原位杂交 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体二体型+染色体三体型 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 血;血液

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CodeSystem lookup
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