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

Turner syndrome (TS), commonly known as 45,X, or 45,XO, is a chromosomal disorder in which cells have only one X chromosome or are partially missing an...

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:...

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

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...

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

eye syndrome Chronic myeloid leukemia DiGeorge syndrome Desmoplastic small round cell tumor 22q11.2 distal deletion syndrome 22q13 deletion syndrome or...

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

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

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...

Vitamin and Nutrition Research. 75 (3): 187–94. doi:10.1024/0300-9831.75.3.187. PMID 16028634. "Search Jablonski's Syndromes Database". United States National...

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

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...

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

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...

"Disruption of the 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...

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...

still present by the time they are 3 years old. This is only the case for 5–8% of preschool children. Savant syndrome Nonverbal autism Language delay § Consequences...

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

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

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

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

colony-stimulating factor (GM-CSF), interleukin-3 (IL-3), and interleukin-5 (IL-5) receptor complexes to chromosome 22q13.1". Human Genetics. 93 (2): 198–200. doi:10...

investigated 3 clusters of SNP's thought to be linked to prostate cancer in Arab populations. The study found that the deletion region on chromosome 22q13, where...

term was first used in 1978 in the Proceedings of the Southeastcon Region 3 Conference 353. Over time, the term was adopted in the context of literature...

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

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

nephronophthisis-like disease. The XPNPEP3 gene is located at chromosome 22q13.2, consisting of 12 exons. Two splice variants of XPNPEP3, APP3m and APP3c...

autism and schizophrenia. For loci such as 16p11.2, 16p13.1, 22p11, and 22q13, deletion is associated with autism whereas duplication is associated with schizophrenia...