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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Appl+Clin+Genet
2015 ; 8
(ä): 123-32
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22q11 deletion syndrome: current perspective
#MMPMID26056486
Hac?hamdio?lu B
; Hac?hamdio?lu D
; Delil K
Appl Clin Genet
2015[]; 8
(ä): 123-32
PMID26056486
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Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy
repeats or segmental duplications. This region of the chromosome is very unstable
and susceptible to mutations. The misalignment of low-copy repeats during
nonallelic homologous recombination leads to the deletion of the 22q11.2 region,
which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is
associated with a wide variety of phenotypes. The term 22q11DS is an umbrella
term that is used to encompass all 22q11.2 deletion-associated phenotypes. The
haploinsufficiency of genes located at 22q11.2 affects the early morphogenesis of
the pharyngeal arches, heart, skeleton, and brain. TBX1 is the most important
gene for 22q11DS. This syndrome can ultimately affect many organs or systems;
therefore, it has a very wide phenotypic spectrum. An increasing amount of
information is available related to the pathogenesis, clinical phenotypes, and
management of this syndrome in recent years. This review summarizes the current
clinical and genetic status related to 22q11DS.
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