22q11 deletion syndrome

22q11 deletion syndrome
hemizygous deletion of a 1.5 to 3.0 Mb region of chromosome 22q11.2 as a result of defective recombination in meiosis. It has a highly variable phenotype, partly as a function of the extent and precise location of the deletion, and includes various named syndromes with different presentations that have been shown to have the same genetic basis, including DiGeorge syndrome and velocardiofacial syndrome (qq.v.).

Medical dictionary. 2011.

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  • 22q11.2 deletion syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 3631 ICD10 = ICD10|D|82|1|d|80 ICD9 = ICD9|279.11, ICD9|758.32 ICDO = OMIM = 188400 MedlinePlus = eMedicineSubj = med eMedicineTopic = 567 eMedicine mult = eMedicine2|ped|589… …   Wikipedia

  • 22q13 deletion syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 606232 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = 22q13 Deletion Syndrome (spoken as twenty two q one three ), also known as Phelan McDermid Syndrome …   Wikipedia

  • DiGeorge syndrome — 22q11.2 deletion syndrome Classification and external resources Brain computer tomography cuts of t …   Wikipedia

  • Syndrome de DiGeorge — Microdélétion 22q11 Pour les articles homonymes, voir Syndrome de Shprintzen. Micro délétion 22q11 …   Wikipédia en Français

  • Syndrome de Di George — Microdélétion 22q11 Pour les articles homonymes, voir Syndrome de Shprintzen. Micro délétion 22q11 …   Wikipédia en Français

  • 22q11 — Klassifikation nach ICD 10 Q93.5 Sonstige Deletionen eines Chromosomenteils …   Deutsch Wikipedia

  • Syndrome CHARGE — Référence MIM 214800 Transmission Dominante Chromosome 8q12.1 Gène CHD7 Empreinte parentale Non …   Wikipédia en Français

  • Syndrome de CHARGE — Syndrome CHARGE Syndrome CHARGE Autre nom Syndrome de Hall Hittner Référence MIM …   Wikipédia en Français

  • Syndrome de charge — Syndrome CHARGE Syndrome CHARGE Autre nom Syndrome de Hall Hittner Référence MIM …   Wikipédia en Français

  • Syndrome de smith-magenis — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

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