CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

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• Chromosome 22 Central

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

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• 22q13 Deletion Syndrome (Phelan-McDermid Syndrome)

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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.

  US Head Office - for US donations: 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

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