CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

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• Trisomy 22 and Rare C22 Disorders

• Cat Eye Syndrome 

• 22q Deletions

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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

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• DECEMBER 2007 
• MAY 2008

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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

COMPLETE TRISOMY 22

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Complete trisomy 22 occurs when an extra (third) copy of chromosome 22 is present in every cell of the body, where there should normally only be two copies. Cases of complete (or full) trisomy 22 are very rare. Most affected individuals with complete trisomy 22 die before or shortly after birth due to severe birth defects. Complete trisomy 22 is the second most common finding in miscarriages after trisomy 16. Survival beyond the first trimester of gestation is very rare. Early reports of trisomy 22 are thought to represent unbalanced translocation 11/22 or mosaicism, as full trisomy 22 is thought to be lethal in early stages. The syndrome causes severe malformations.

CLINICAL FEATURES MAY INCLUDE:

• microcephaly
• abnormal ears
• webbed neck
• cardiac abnormalities
• long fingers
• kidney problems (missing, extra, or underdeveloped kidneys)
• growth retardation
• cleft palate/lip
• mental delay
• flat nasal bridge
• excess neck skin
• hypospadias
• anal stenosis
• clinodactyly of fifth fingers
• abnormal finger/toe nails
• cyanosis
• preauricular pits/tags
• preauricular sinus
• imperforate anus/rectal abnormalities
• rocker bottom feet
• finger like thumbs
• epicanthal folds
• vascular malformations
• gastrointestinal malformations
• seizures
• hypotonia
• this is not a complete list, other findings may be present. Click here for a more extensive list of findings.

LIST OF TRISOMY 22 REFERENCE ARTICLES

  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

  Latin America / Spanish inquiries - Laura Munoz, Robinson Crusoe 1209, Las Condes - Santiago, Chile tel: 02-3251262 EMAIL: lauramuno@hotmail.com