22q13 deletion syndrome
Phelan-McDermid syndrome

The incidence of the 22q13 deletion syndrome is uncertain.

The core characteristics of 22q13 Deletion Syndrome (listed above) have a major impact on the individual.

Current thinking is that 22q13 deletion syndrome remains largely under-diagnosed, and may be one of the principal causes of idiopathic mental retardation.

Autism sometimes arises from rare single-gene neurodevelopmental disorders such as fragile X syndrome and 22q13 deletion syndrome.

Typically, autism cannot be traced to a Mendelian (single-gene) mutation or to single chromosome abnormalities such as fragile X syndrome or 22q13 deletion syndrome.

Phelan-McDermid Syndrome / 22q13 Deletion Syndrome is a condition caused by the deletion of the tip of the q arm on chromosome 22.

"22q13 Deletion Syndrome with Central Diabetes Insipidus: a Previously Unreported Association" - Clinical Dysmorphology, Jan. 2005.

Examples of diseases that are diagnosed using FISH include Prader-Willi syndrome, Angelman syndrome, 22q13 deletion syndrome, chronic myelogenous leukemia, acute lymphoblastic leukemia, Cri-du-chat, Velocardiofacial syndrome, and Down syndrome.

There are approximately 600 reported cases of Phelan-McDermid Syndrome worldwide.

Phelan-McDermid Syndrome is characterized by global developmental delay, absent or severely delayed speech, and neonatal hypotonia.

Mary Catherine (Katy) Phelan, geneticist, discoverer of Phelan-McDermid Syndrome, deletion of the long arm of chromosome 22.

Phelan-McDermid Syndrome / 22q13 Deletion Syndrome is a condition caused by the deletion of the tip of the q arm on chromosome 22.

Support for families whose children are affected by abnormalities involving the 22q13 region of the 22nd chromosome, including terminal and interstitial deletions, mutations and other problems which lead to Phelan-McDermid syndrome.

There is a great deal of interest in one gene that is often deleted in Phelan-McDermid Syndrome, SHANK3 (also known as PROSAP2).

Deletion 22q13 Syndrome None Phelan-McDermid syndrome is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 22 is missing (deleted or monosomic).

Although the range and severity of symptoms may vary, Phelan-McDermid syndrome is generally thought to be characterized by low muscle tone, normal to accelerated growth, absent to severely delayed speech, moderate to profound mental retardation, and minor dysmorphic features.