Mikrodeletionssyndrom 21q22

Klassifikation nach ICD-10
Q93.5 Sonstige Deletionen eines Chromosomenteils
{{{02-BEZEICHNUNG}}}
{{{03-BEZEICHNUNG}}}
{{{04-BEZEICHNUNG}}}
{{{05-BEZEICHNUNG}}}
{{{06-BEZEICHNUNG}}}
{{{07-BEZEICHNUNG}}}
{{{08-BEZEICHNUNG}}}
{{{09-BEZEICHNUNG}}}
{{{10-BEZEICHNUNG}}}
{{{11-BEZEICHNUNG}}}
{{{12-BEZEICHNUNG}}}
{{{13-BEZEICHNUNG}}}
{{{14-BEZEICHNUNG}}}
{{{15-BEZEICHNUNG}}}
{{{16-BEZEICHNUNG}}}
{{{17-BEZEICHNUNG}}}
{{{18-BEZEICHNUNG}}}
{{{19-BEZEICHNUNG}}}
{{{20-BEZEICHNUNG}}}
Vorlage:Infobox ICD/Wartung {{{21BEZEICHNUNG}}}
ICD-10 online (WHO-Version 2019)

Das Mikrodeletionssyndrom 21q22 ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Pierre-Robin-Sequenz, persistierende angeborene Thrombozytopenie, Corpus-callosum-Agenesie, Gesichtsdysmorphie und erhebliche Entwicklungsretardierung.[1]

Synonyme sind: Del(21)(q22.11q22.12); Mikrodeletionssyndrom 21q22.11-q22.12; Monosomie 21q22.11-q22.12; Braddock-Carey-Syndrom

Die Namensbezeichnung bezieht sich auf die Autoren der Erstbeschreibung aus dem Jahre 1994 durch die US-amerikanischen Kinderärzte Stephen R. Braddock und J. C. Carey.[2]

Die Erkrankung ist nicht zu verwechseln mit dem Braddock-Syndrom.

Verbreitung

Die Häufigkeit wird mit unter 1 zu 1.000.000 angegeben, über einen Vererbungsmechanismus ist nichts bekannt.[1]

Ursache

Zugrunde liegt eine Mikrodeletion in der DSCR, Down syndrome critical region auf Chromosom 21 auf q22 unter Beteiligung benachbarter Gene, daher auch die Bezeichnungen Mikrodeletionssyndrom 21q22.11-q22.12; Monosomie 21q22.11-q22.12. Insbesondere wurde bei diesem Mikrodeletionssyndrom das RUNX1 (Runt-related transcription factor 1) Gen identifiziert.[3][4]

Klinische Erscheinungen

Klinische Kriterien sind:[1]

Diagnose

Die Diagnose ergibt sich aus der Kombination klinischer Veränderungen sowie ggf. der Befunde in der Kernspintomographie des Gehirnes.

Einzelnachweise

  1. ↑ a b c Eintrag zu Mikrodeletionssyndrom 21q22.11q22.12. In: Orphanet (Datenbank für seltene Krankheiten)
  2. ↑ S. R. Braddock, J. C. Carey: A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. In: Clinical dysmorphology. Band 3, Nummer 1, Januar 1994, S. 75–81, PMID 7515754.
  3. ↑ S. R. Braddock, S. T. South, J. D. Schiffman, M. Longhurst, L. R. Rowe, J. C. Carey: Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1. In: American journal of medical genetics. Part A. Band 170, Nummer 10, 10 2016, S. 2580–2586, doi:10.1002/ajmg.a.37870, PMID 27549381
  4. ↑ RUNX1. In: Online Mendelian Inheritance in Man. (englisch)

Read other articles:

Nol-COVID

Sebuah barrier pada perbatasan negara bagian Queensland dan New South Wales mencegah perjalanan antar-negara bagian pada April 2020 pada masa pandemi Covid-19 di Australia. Zero-COVID (Nol-COVID), juga dikenal sebagai Find, Test, Trace, Isolate and Support (FTTIS, Temukan, Uji, Lacak, Isolasi, dan Dukung), adalah sebuah strategi yang diberlakukan oleh beberapa negara pada pandemi Covid-19. Pengendalian dan strategi penekanan maksimum dilibatkan melalui tindakan-tindakan kesehatan masyarakat s...

 

Loki (komik)

LokiSampul Thor Vol 2 No. 64 (Juli 2003)Seni oleh Ben LaiInformasi publikasiPenerbitMarvel ComicsPenampilan pertamaHistoris:Venus #6 (Agustus 1949)Modern:Journey into Mystery No. 85 (Oktober 1962)Dibuat olehStan Lee (Penulis)Larry LieberJack Kirby (Ilustrasi)Informasi dalam ceritaFull nameLoki LaufeysonSpesiesJötunn (Frost Giant)Afiliasi timActs of VengeanceAstonishing AvengersCabalYoung AvengersNama alias terkenalLoki Odinson, Scarlet Witch, Serrure, IkolKemampuan Master manipulator, penipu...

 

Midway Airlines (1993–2003)

Former Morrisville, North Carolina-based passenger airline (1993–2003) This article is about the Midway Airlines that operated from 1993 to 2003. For the Chicago-based Midway Airlines that operated from 1976 to 1991, see Midway Airlines (1976–1991). This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.Find sources: Midway Airlines 1993–2003 –&#...

Helen McNicoll

Helen Galloway McNicollSebuah potret Helen McNicoll dilukis oleh Robert Harris, c 1910Lahir(1879-12-14)14 Desember 1879Toronto, KanadaMeninggal27 Juni 1915(1915-06-27) (umur 35)Swanage, Britania RayaKebangsaanKanadaPendidikanArt Association of Montreal, Slade School of Fine ArtDikenal atasLukisanGerakan politikImpresionismeElectedRoyal Canadian Academy of Arts, Royal Society of British Artists Helen Galloway McNicoll RCA (14 Desember 1879 – 27 Juni 1915) adalah seorang p...

 

Podao

Type of pole weapon This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.Find sources: Podao – news · newspapers · books · scholar · JSTOR (December 2009) (Learn how and when to remove this message) PodaoA photograph of a Chinese podao, with the handle wrapped in hemp rope.Traditional Chinese朴刀Simplified Chinese朴刀TranscriptionsStan...

 

Richard M. Russell

American lawyer and politician (1891–1977) Richard M. RussellMember of the U.S. House of Representativesfrom Massachusetts's 9th districtIn officeJanuary 3, 1935 – January 3, 1937Preceded byRobert LuceSucceeded byRobert LuceMayor of Cambridge, MassachusettsIn officeJanuary 1930 – January 1936Preceded byEdward W. QuinnSucceeded byJohn D. Lynch Personal detailsBornMarch 3, 1891Cambridge, MassachusettsDiedFebruary 27, 1977(1977-02-27) (aged 85)Essex, Mass...

Fernando Marchiori

Brazilian footballer and manager (born 1979) In this Portuguese name, the first or maternal family name is Marchiori and the second or paternal family name is Lavagnoli. Fernando Marchiori Marchiori as manager of Portuguesa in 2021Personal informationFull name Fernando Marchiori LavagnoliDate of birth (1979-06-19) 19 June 1979 (age 44)Place of birth São Paulo, BrazilHeight 1.73 m (5 ft 8 in)Position(s) MidfielderSenior career*Years Team Apps (Gls)1993–1999 Portugues...

 

Brazil–Tanzania relations

Bilateral relationsBrazil–Tanzania relations Brazil Tanzania Brazil–Tanzania relations refers to the bilateral relations between Brazil and Tanzania. Both nations are members of the Group of 77 and the United Nations. History Brazil and Tanzania established diplomatic relations in 1970.[1] In 1979, Brazil opened an embassy in Dar es Salaam; however, the embassy was closed in 1991 due to budget restraints. In March 2005, the Brazilian embassy in Dar es Salaam was reopened.[1 ...

 

Academic medical centre

Medical school affiliated with a teaching hospital An academic medical centre (AMC), variously also known as academic health science centre, academic health science system, or academic health science partnership, is an educational and healthcare institute formed by the grouping of a health professional school (such as a medical school) with an affiliated teaching hospital or hospital network. AMCs are intended to ensure that medical research breakthroughs lead to direct clinical benefits for ...

Cifra (matemática)

Los diez dígitos utilizados en la cultura occidental. Con ellos podemos representar gráficamente los números. Una cifra es un símbolo o carácter gráfico que sirve para representar un número.[1]​ Por ejemplo, los caracteres «0», «1», «2», «3», «4», «5», «6», «7», «8» y «9» son cifras del sistema de numeración arábigo, mientras que los caracteres «I», «V», «X», «L», «C», «D» y «M» son cifras del sistema de numeración romano. Las cifras se usan t...

 

Dobrujan Germans

German ethnic group Ethnic group Dobrujan GermansGerman: DobruschadeutscheThe historical coat of arms of the Dobrujan Germans (which is a form of the coat of arms of the Romanian Dobruja or Northern Dobruja)Regions with significant populations Northern DobrujaLanguagesGermanReligionRoman Catholicism and Evangelical LutheranismRelated ethnic groupsGermans and Austrians Lived in Dobruja (more specifically Northern Dobruja) between the late 19th century and mid 20th century (and, in very smaller...

 

WWE Hall of Fame

WWE Hall of Fame Logotype du WWE Hall of Fame depuis 2015. Données clés Création 22 mars 1993 Membres Nombre total 204 au total 113 catcheurs 15 équipes (44 membres) (-4 intronisés 2 fois) 10 célébrités 5 Warrior Awards 36 membres Legacy modifier Le WWE Hall of Fame (anciennement WWF Hall of Fame) est une institution qui honore d'anciens employés de la World Wrestling Entertainment (anciennement World Wrestling Federation) et d'autres figures qui ont contribué au catch et au divert...

Newlands Cricket Ground

Cricket ground This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.Find sources: Newlands Cricket Ground – news · newspapers · books · scholar · JSTOR (December 2017) (Learn how and when to remove this message) Six Gun Grill NewlandsNewlandsGround informationLocationCape Town, South AfricaCoordinates33°58′25″S 18°28′8...

 

1990年亞洲運動會羽毛球比賽

1990年亞洲運動會羽毛球比赛地點 中国北京← 19861994 → 1990年亞洲運動會羽毛球比賽為第十一屆亞洲運動會的其中一項競賽項目，共產生七面金牌；賽事於1990年在中國北京舉行。 賽事資料 比賽安排 賽事包括：男子團體、女子團體、男子單打、女子單打、男子雙打、女子雙打及混合雙打七個項目。 參賽運動員 賽程 獎牌榜 國家獎牌榜 排名 国家／地区 金牌 ...

 

1595 en musique classique

Chronologies Données clés 1592 1593 1594  1595  1596 1597 1598Décennies :1560 1570 1580  1590  1600 1610 1620Siècles :XIVe XVe  XVIe  XVIIe XVIIIeMillénaires :-Ier Ier  IIe  IIIe Chronologies thématiques Art Architecture, Arts plastiques (Dessin, Gravure, Peinture et Sculpture), (), (), Littérature () et Musique (Classique)   Ingénierie (), Architecture, () et ()   Politique Droit et ()   Religion (,)   Scienc...

エレクトロラックス

エレクトロラックスElectrolux AB 種類 AB市場情報 Nasdaq Nordic ELUX ANasdaq Nordic ELUX B本社所在地  スウェーデン105 45Saint Goransgatan 143, ストックホルム設立 1919年 (105年前) (1919)業種 電気機器事業内容 家電製品の製造・販売代表者 ヨナス・サミュエルソン（CEO）外部リンク www.electrolux.comwww.electroluxgroup.comテンプレートを表示 エレクトロラックス（AB Electrolux、スウェーデ�...

 

Elizabeth Gaskell

Si ce bandeau n'est plus pertinent, retirez-le. Cliquez ici pour en savoir plus. Cet article ne cite pas suffisamment ses sources (décembre 2023). Si vous disposez d'ouvrages ou d'articles de référence ou si vous connaissez des sites web de qualité traitant du thème abordé ici, merci de compléter l'article en donnant les références utiles à sa vérifiabilité et en les liant à la section « Notes et références ». En pratique : Quelles sources sont attendues ?...

 

Gerry Conway

Disambiguazione – Se stai cercando l'ex batterista dei Jethro Tull, vedi Gerry Conway (musicista). Questa voce sull'argomento fumettisti statunitensi è solo un abbozzo. Contribuisci a migliorarla secondo le convenzioni di Wikipedia. Gerry Conway Gerry Conway, vero nome Gerard F. Conway (New York, 10 settembre 1952), è un fumettista e sceneggiatore televisivo statunitense. È conosciuto principalmente per aver scritto per la Marvel Comics la storia in cui muore Gwen Stacy (Amazing Sp...

Города Финляндии

Города Финляндии — муниципальные образования Финляндии, имеющие статус города (фин. kaupunki). В 2018 году в Финляндии насчитывается 107 городов. Города в Финляндии на 2020 год Список городов Герб Название Финское название Шведское название Регион Область Население Основание ...

 

الصحراء الغربية

  لمعانٍ أخرى، طالع الصحراء الغربية (توضيح).   هذه المقالة عن منطقة متنازع عليها في المغرب العربي. لالمنطقة الجغرافية المصرية، طالع الصحراء الغربية في مصر. الصحراء الغربية (بالإنجليزية: Western Sahara)‏    الأرض والسكان إحداثيات 25°N 13°W / 25°N 13°W / 25; -13  ...