CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

We are all about connecting! 
Click here for an online membership form to JOIN US!  
Registered members receive our newsletter and can choose to be listed in our parent registry.

C22C is a parent driven group with more than 1000 members in 45+ countries. 

HOME | EVENTS | RESEARCH | NEWS | LINKS | PRIVACY POLICY | DISCLAIMER

Join our main support list

CLICK HERE FOR MORE E-MAIL LISTS (choose from, c22cnews only, infant/pregnancy loss, caregivers of adults, Spanish

MESSAGE BOARDS

• Trisomy 22 and Rare C22 Disorders

• Cat Eye Syndrome 

• 22q Deletions

FACEBOOK GROUP

MEMBERSHIP FORM

C22C INTERNATIONAL PARENT CONTACTS

LEARN ABOUT

• 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

• Complete or Full Trisomy 22

• Mosaic Trisomy 22

• Chromosome 22 Ring

• Monosomy 22 Mosaicism 

• Unique Chromosome 22 Disorders

• Books

 NEWSLETTERS

• NOVEMBER 2006
• FEBRUARY 2007 
• MAY 2007 
• SEPTEMBER 2007
• DECEMBER 2007 
• MAY 2008

DOWNLOAD A .PDF COPY OF OUR BROCHURE - SPREAD THE WORD!

Chromosome 22 Central Inc. is a registered Canadian Non-Profit Organization 
and Registered Charity BN# 86009 3665 RR0001, and a Registered US Corporation with Non-Profit Status

MONOSOMY 22 MOSAICISM

Mosaic Monosomy 22 is a very rare condition. It occurs when there is only 1 copy of chromosome 22 found in a percentage of cells, instead of the usual 2 copies. There are very few published articles. (See reference list below). Due to the few reported cases, it has been difficult for researchers to identify clinical features specific to this disorder.(1).

FEATURES REPORTED IN THE LITERATURE:

• significant delay in motor and mental development 
• hypotonia
• large ears/low set ears
• hyperextensible joints
• cutaneous syndactyly (webbing of fingers)
• short neck
• failure to thrive
• epicanthal folds
• hypertelorism
• flat nasal bridge
• club foot
• hip dysplasia
• cardiac anomalies
• humoral immunodeficiency
• gastroschisis

1.  Monosomy 22 Mosaicism, Sabui TK, Chakraborty, AK, Monosomy 22 Mosaicism. Indian Pediatrics, V34, April 1997. 348-352.

2. Fetal Gastroschisis associated with monosomy 22 mosaicism and absent cerebral diastolic flow. Lewinsky, R.M., Johnson, J.M., Lao, T.T., Winsor E.J., Cohen H. Prenatal Diagnosis, Vol. 10, 605-608. 1990.

3. Chromosome 22 Mosaic Monosomy (46, XY/45,XY-22). Verloes A., Herens C., Lambotte C., Frederic J., Ann Genet, 1987 30, no.3., 178-179.

4. Monosomy 22 with humoral immunodeficiency: Is there an immunoglobulin chain deficit? J Med Genet 1983; 20: 69-72.

5. Monosomy 22 with mosaicism. Moghe MS, Patel ZM, Peter JJ, Ambani LM. J Med Genet. 1980. 18, 71-73.

6. Monosomy of chromosome 22: a case report. Cicco F. de, Steele MW, Pan S, Park SC. J Pediatr, 1973, 83, 836-838.

7. Multiple anomalies including thymic aplasia associated with monosomy 22. Rosenthal IM, Bocian M., Krmpotic E. Pediatr Res. 1972, 6, 358.

 Use Paypal to pay MEMBERSHIP DUES, or for Canadian or International Donations ONLY.

USA members for DONATIONS Please forward a cheque or money order to our US HEAD OFFICE so that you can obtain a tax receipt.

Head Office - for ALL inquiries: Chromosome 22 Central, c/o Stephanie St-Pierre, 237 Kent Avenue, Timmins, Ontario, Canada P4N 3C2 
tel/fax: (705) 268-3099, EMAIL:  steph.stpierre@gmail.com

US Head Office - donations only: Chromosome 22 Central, c/o Murney Rinholm, 7108 Partinwood Drive, Fuquay-Varina, North Carolina, 27526  USA, 
tel (919) 567-8167, EMAIL: bgr@nc.rr.com