CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

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• Trisomy 22 and Rare C22 Disorders

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• Chromosome 22 Central

• 22q11 Deletion Syndrome (DiGeorge Syndrome, Velocardiofacial Syndrome)

• Microduplication 22q11 Syndrome

• The 11/22 Translocation (Emanuel Syndrome, partial trisomy 11/22)

• 22q13 Deletion Syndrome (Phelan-McDermid Syndrome)

• Cat Eye Syndrome

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NOTE FROM 22q13 FOUNDATION REGARDING NAME....

22q13 DELETION SYNDROME NOW HAS 2ND NAME: PHELAN-McDERMID SYNDROME

Ever since our support group was formed, the parents have questioned why our syndrome doesn't have a "real name." When we describe our child as having 22q13 Deletion Syndrome people look at us like we are speaking a different language. Our group has long felt that our syndrome needed a name, much like trisomy 21 is named Down syndrome. After much consideration we have decided to name our syndrome thePhelan-McDermid Syndrome, after the two experts who were at the forefront of the research into the disability. Katy Phelan organized the Deletion 22q13 Support Group in 1998 and has been active in educating the medical community about Deletion 22q13 through publications and presentations. Likewise, Heather McDermid, an associate professor at the University of Alberta, has contributed immensely to the molecular characterization of this deletion and to the identification of PROSAP2 as the candidate gene. Those who attended the first support group meeting may remember that the name Phelan-McDermid Syndrome was suggested then, and we joked about using the abbreviation PMS. Now apparently the medical community has abandoned using the phrase premenstrual syndrome in favor of premenstrual dysphoric disorder (PMDD), so we decided to seize the opportunity (and the initials PMS) to name our syndrome. The names Deletion 22q13 Syndrome and Phelan-McDermid syndrome can be used interchangeably. Whichever name you use, you will most likely be the one educating your friends, family, therapists and even medical professionals as to what the syndrome means. Our new name – Phelan-McDermid Syndrome – is gradually making its way into the medical literature. If you check out www.orpha.net (a Web site for rare diseases) and search for 22q13, Phelan-McDermid Syndrome comes up in the full-text article as an alternate name for this syndrome.

Nick Assendelft
Vice-President
22q13 Deletion Syndrome Foundation
Phelan-McDermid Syndrome
Editor, Deletion 22q13 UPDATE
Vice-Chair, Communications Committee
SG22q13@aol.com

Deletion of 22q13.3 is not as common as 22q11 deletion. The deletion occurs at the very end tip (The distal end) of Chromosome 22. Patients missing this part of chromosome 22 present similar features.

Findings in patients have included (in no particular order):

• Hypotonia
• developmental delay
• speech difficulties
• macrocephaly
• seizures
• Ptosis
• Epicanthal folds
• high arched palate
• dolicocephaly
• lymphedema
• mild dilitation of cerebral ventricles
• dysplastic ears
• delay in gross motor milestones
• normal or accelerated growth
• mild facial dysmorphic features
• Dolicocephaly
• downslanting palpebral fisuures
• simian crease
• syndactyly
•  

FULL TEXT ARTICLE LINKS:

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

Cryptic subtelomeric translocations in the 22q13 deletion syndrome.

• 22q13 DELETION ARTICLE LIBRARY

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Head Office - for ALL inquiries: Chromosome 22 Central, c/o Stephanie St-Pierre, 237 Kent Avenue, Timmins, Ontario, Canada P4N 3C2 
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