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...

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

Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder...

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...

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...

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

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

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...