36917-3

Chromosome uniparental disomy [Identifier] in Blood or Tissue by Molecular genetics method Narrative

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Part Description

LP33556-9 Chromosome uniparental disomy
Uniparental disomy (UPD) occurs when an individual inherits two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent (an earlier stage meiosis I error) or isodisomy, in which a single chromosome from one parent is duplicated (a later stage meiosis II error). Because it may lead to the duplication of lethal recessive genes, isodisomy is potentially dangerous, while heterodisomy is essentially benign. Conditions that occur due to UPD include Prader-Willi syndrome (chromosome 15), Angelman syndrome (chromosome 15), and Beckwith-Wiedemann syndrome (chromosome 11). Chromosome 14 is also known to cause particular symptoms such as skeletal abnormalities, mental retardation and joint contractures among others. 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 , Uniparental disomy

Fully-Specified Name

Component: Chromosome uniparental disomy
Property: Prid
Time: Pt
System: Bld/Tiss
Scale: Nar
Method: Molgen

Additional Names

Long Common Name: Chromosome uniparental disomy [Identifier] in Blood or Tissue by Molecular genetics method Narrative
Short Name: Chr UpDi Bld/T
Display Name: Chr uniparental disomy Molgen Nar (Bld/Tiss)
Consumer Name Alpha Get Info: Chromosome uniparental disomy, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.TRISOMY
Type: Laboratory
First Released: Version 2.13
Last Updated: Version 2.73 (MIN)
Order vs. Observation: Both
Common Test Rank Get Info: 13751

Language Variants Get Info

Tag	Language	Translation
el-GR	Greek (Greece)	Μονογονεϊκή δισωμία χρωμοσώματος:Prid:Pt:Αίμα/Ιστός:Nar:Μοριακή γενετική Synonyms: Prid Μονογονεϊκή δισωμία χρωμοσώματος Χρωμόσωμα
es-AR	Spanish (Argentina)	disomía cromosómica uniparental:presencia o identidad:punto en el tiempo:tejido, no especificado:Narrativo:
es-ES	Spanish (Spain)	Disomía uniparental cromosómica:Presencia o identidad:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
es-MX	Spanish (Mexico)	Disomía uniparental cromosómica:Presencia o identidad:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
fr-FR	French (France)	Chromosome disomie uniparentale:Identification:Ponctuel:Sang/Tissu:Résultat textuel:Biologie moléculaire
it-IT	Italian (Italy)	Disomia cromosomica uniparentale:Prid:Pt:Sangue/Tess:Nar:Molgen Synonyms: Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci Trisomia cromosoma genetica
ko-KR	Korean (Korea, Republic Of)	Chromosome uniparental disomy:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL	Dutch (Netherlands)	chromosoom uniparentale disomie:identificator:moment:bloed of weefsel:tekstueel:moleculair genetisch onderzoek Synonyms: molgen
pl-PL	Polish (Poland)	Jednorodzicielska disomia chromosomu:wykrycie lub identyfikacja:punkt w czasie:krew lub tkanka:opisowy:genetyka molekularna
pt-BR	Portuguese (Brazil)	Disomia uniparenteral do cromossomo:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: ; Chromosome UpDi; Chromosomes; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Chromosom; Molecular pathology
ru-RU	Russian (Russian Federation)	Хромосома унипарентальная дисомия:ПрИд:ТчкВрм:Кр/Тк:Опис:МолГен Synonyms: Кровь Кровь или Ткань Описательный Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	Kromozom uniparental dizomi:MevcKimlik:Zmlı:Kan/Dk:Öykü:Molgen
zh-CN	Chinese (China)	染色体单亲双体性:存在与否或特征标识:时间点:全血/组织:叙述型:分子遗传学类实验室方法 Synonyms: 三体型三体细胞三染色体性三染色体细胞全血或组织;血液/组织;血液或组织分子病理学;分子病理学试验分子病理学试验类.三体性（三体型）分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型存在;存在与否;特征标识;身份;身份标识时刻;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单亲二体型;染色体单亲二体性;染色体单亲双体型血;血液

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