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

chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome...

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

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...

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

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...

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...

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...

distal deletion syndrome 22q11.2 duplication syndrome 22q13 deletion syndrome 2p15-16.1 microdeletion syndrome 2q37 deletion syndrome 3-M syndrome 3C syndrome...

as limb anomalies, syndromes involving multiple systems, and Down syndrome. Recent studies have concluded that 5-9% of Down syndrome cases are due to paternal...

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...

Understanding the Special Interest Areas of Children and Youth With Asperger Syndrome". Remedial and Special Education. 28 (3): 140–152. doi:10.1177/07419325070280030301...

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...

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

Associated syndromes 22q13 deletion syndrome Angelman syndrome CHARGE syndrome Cohen syndrome Cornelia de Lange syndrome DiGeorge syndrome Down syndrome Fetal...

years old. This is only the case for 5–8% of preschool children. Savant syndrome Nonverbal autism Language delay § Consequences of language delay Camarata...

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

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

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

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

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

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

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

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...

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...

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...

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...