22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long...

to the signs and symptoms of 22q11.2 deletion syndrome. 22q11.2 distal deletion syndrome 22q13 deletion syndrome Other chromosomal conditions: Other changes...

a deletion of the short p arm of one X chromosome (46,X,del(Xp)) or the presence of an isochromosome with two q arms (46,X,i(Xq)) Turner syndrome has...

Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...

Pandya, A. (2001). "Waardenburg syndrome type 3 (Klein–Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3:...

cause 22q13 deletion syndrome a.k.a. Phelan–McDermid syndrome 3-Methylcrotonyl-CoA carboxylase deficiency Achondroplasia ADNP syndrome Aicardi syndrome Autism...

duplication syndrome 22q11.2 distal deletion syndrome 22q11.2 duplication syndrome 22q13 deletion syndrome 2p15-16.1 microdeletion syndrome 2q37 deletion syndrome...

or to single chromosome abnormalities such as fragile X syndrome or 22q13 deletion syndrome. 10–15% of autism cases may result from single gene disorders...

investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency". Molecular Autism. 4 (1): 16. doi:10.1186/2040-2392-4-18...

common than the deletion; this might relate to the milder phenotype of the individuals. 22q13 deletion syndrome (Phelan–McDermid syndrome) is a condition...

of the two copies (a dominant disorder). Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome....

disorder. This gene is often missing in patients with 22q13.3 deletion syndrome (Phelan-McDermid syndrome), although not in all cases. SHANK3 has been shown...

size of the deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion syndrome. Confirming...

risk of miscarriage, including diabetes, endometriosis, polycystic ovary syndrome (PCOS), hypothyroidism, certain infectious diseases, and autoimmune diseases...

Rubinstein–Taybi syndrome. Mutations in the EP300 gene, located on chromosome 22q13.2, are responsible for a small percentage of cases of Rubinstein–Taybi syndrome. These...

that are diagnosed using FISH include Prader-Willi syndrome, Angelman syndrome, 22q13 deletion syndrome, chronic myelogenous leukemia, acute lymphoblastic...

(Velo-cardio-facial syndrome): schizophrenia/duplication: autism) and 22q13.3 (deletion (Phelan-McDermid syndrome): schizophrenia/duplication: autism). Further research...

See also References 22q13 deletion syndrome Abulia Achromatopsia Addiction Acquired brain injury Agraphia Agnosia Aicardi syndrome AIDS – neurological...

conditions: Chromosome 22q13 duplication syndrome Chromosome 2p25.3 deletion (MYT1L Syndrome) Chromosome Xq26.3 duplication syndrome Congenital generalized...

nonhomologous chromosomes). Polysomy is found in many diseases, including Down syndrome in humans where affected individuals possess three copies (trisomy) of...

Levy RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens...

June 1999. “Gitelman's Syndrome (Familial Hypokalemia-Hypomagnesemia),” Journal of Nephrology, June 2001. “22q13 Deletion Syndrome with Central Diabetes...

rejection Autoimmune disorder Coeliac disease Lupus Antiphospholipid antibody syndrome Anti-thyroid autoantibodies Placenta abnormality Previous miscarriage Eating...

(2013-11-14). "SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients". Nature. 503 (7475): 267–271. Bibcode:2013Natur.503....

22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome/Prader–Willi syndrome (15) Distal 18q-/Proximal 18q-...

or in association with other genetic disorders such as Down syndrome or Waardenburg syndrome. About half of isolated cases are linked to a specific genetic...

Phelan-McDermid syndrome, another chromosome 22 deletion syndrome. This is ascribed to a shared deletion of the SHANK3 gene at 22q13.3. Reports exist...

ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome". Am J Hum Genet. 69 (2): 261–8. doi:10.1086/321293. PMC 1235301...

integration into circuits. Next, Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is a neurodevelopmental disorder with a high risk...

prostate cancer in Arab populations. The study found that the deletion region on chromosome 22q13, where FAM227A is located, can also be linked to breast and...