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22q13

A chromosome band present on 22q
National Institutes of Health

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4 relations
21qChromosomesMKL1 wt AlleleRANGAP1 wt Allele

Papers overview

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2018
2018
Unilateral Opercular Po ymicrogyria in a Girl with 22 q 13 Deletion Syndrome
The 22q13 deletion syndrome, also known as Phelan-McDermid Syndrome (PMS), is a chromosomal microdeletion syndrome characterized… 
2017
2017
Array CGH-based Detection and Characterization of Combined 1p36 Deletion and 22q13 Duplication in a Boy and a Fetus from a Single Family
Purpose: 1p36 deletion syndrome is the most common terminal deletion syndrome, with an incidence of 1/5,000 newborns. But 22q13… 
2017
2017
Síndrome deleción del cromosoma 22q13. Análisis de la segregación de una translocación cromosómica paterna.
INTRODUCCION:El Sindrome delecion del cromosoma 22q13 o Sindrome Phelan McDermid, se expresa por la ausencia del gen SHANK3 en… 
2015
2015
The deletion 22q13 syndrome: a new case.
The deletion 22q13.3 syndrome (Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal… 
2010
2010
Array CGH characterization of three patients with deletion 22q13
Chromozomove aberace v oblasti subtelomer bývaji přicinou mentalni retardace v 5-7% připadů. Jejich velikost (meně než 5Mb) je p… 
2008
2008
[Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis].
BACKGROUND Clarifying the cause of global developmental and speech delay is of considerable significance in pediatrics. We… 
2007
2007
Muskuläre Hypotonie, Entwicklungsretardierung, Sprachentwicklungsstörung und geringgradige Dysmorphiezeichen: 22q13-Deletions-Syndrom (Phelan-McDermid-Syndrom) als wichtige Differenzialdiagnose
Hintergrund: Patientin: Methode: Ergebnisse: Schlussfolgerung: Background: Patient: Method: Results: Conclusion: 
2004
2004
GENE DOSE IMBALANCES IN CHILDREN WITH MENTAL RETARDATION
Submicroscopic chromosome aberrations can cause mental retardation (MR), congenital malformations and miscarriage. It is… 
2003
2003
Soft tissue sarcomas of the extremities in adults
Amputation has long been the standard treatment for soft tissue sarcomas giving good local control but with a poor quality of… 
2001
2001
Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell to an acronym
Editor—Time may be closing on use of the acronym “CATCH22” for “deletion 22q11 syndrome”,1 but it is likely to be a good while…