Version 2.79

Term Description

FISH studies are performed using a probe targeting the p11.2 region on chromosome 17 to detect a deletion consistent with a diagnosis of 17p11.2 deletion (Smith-Magenis) syndrome. Additional signals are consistent with a diagnosis of 17p11.2 duplication (Potocki-Lupski) syndrome. 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.).

Part Descriptions

LP208594-4   Chromosome region 17p11.2
The retinoic acid induced 1 (RAI1) gene, located in the 17p11.2 region, is the causative gene for Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS). SMS and PTLS are characterized by multiple congenital anomalies and mental retardation resulting from either a deletion (SMS) or duplication (PTLS) of the 17p11.2 chromosome region. The disorders are diagnosed using a combination of clinically recognized phenotypes and molecular cytogenetic analyses, including fluorescent in situ hybridization (FISH). Clinically, PTLS presents as a milder syndrome than SMS. Source: Regenstrief LOINC , PMID: 18373405

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
Chromosome region 17p11.2 deletion
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
FISH

Additional Names

Long Common Name
Chromosome region 17p11.2 deletion in Blood or Tissue by FISH
Short Name
Chr 17p11.2 Del Bld/T FISH
Display Name
17p11.2 del FISH Doc (Bld/Tiss)
Consumer Name Alpha Get Info
17p11.2 deletion analysis, Blood or tissue specimen

Basic Attributes

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

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Χρωμοσωμική περιοχή 17p11.2 διαγραφή:Εύρεση:Pt:Αίμα/Ιστός:Doc:Φθορίζουσα υβριδοποίηση in situ
Synonyms: Εύρεση Περιοχή Χρωμόσωμα Χρωμοσωμική περιοχή Χρωμοσωμική περιοχή 17p11.2
es-ES Spanish (Spain) Región cromosómica 17p11.2 Deleción:Hallazgo:Punto temporal:Sangre o tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Deleción de la región cromosómica 17p11.2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Hibridación fluorescente in situ (FISH)
fr-FR French (France) Chromosome région 17p11.2 délétion:Recherche:Ponctuel:Sang/Tissu:Document:FISH
it-IT Italian (Italy) Regione cromosomica 17p11.2 Delezione:Osservazione:Pt:Sangue/Tess:Doc:FISH
Synonyms: 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) chromosoomgebied 17p11.2 deletie:bevinding:moment:bloed of weefsel:document:FISH
pl-PL Polish (Poland) Region chromosomowy 17p11.2 delecja:wynik:punkt w czasie:krew lub tkanka:dokument:fluorescencyjna hybrydyzacja in situ (FISH)
Synonyms: Delecja prążka 11.2 krótkiego ramienia chromosomu 17
zh-CN Chinese (China) 染色体区域 17p11.2 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 区;地区;局部 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 染色体区域（染色体部位、染色体区、染色体区带、染色体部） 17p11.2 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 染色体部位;染色体区;染色体区带;染色体部;染色体区域（染色体部位、染色体区、染色体区带、染色体部） 血;血液

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