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"Resources" on this report.
Copyright 1992, 2000, 2003, 2009
NORD is very grateful to Shashikant Kulkarni, PhD, Director of CytoGenomics and Molecular Pathology, Director of Clinical & Molecular Cytogenetics, Department of Pathology, Washington University School of Medicine, for assistance in the preparation of this report.
Synonyms of Chromosome 22 Ring
- r(22)
- Ring 22
- Ring 22, Chromosome
Disorder Subdivisions
General Discussion
Chromosome 22 Ring is a rare disorder characterized by abnormalities of the 22nd chromosome. Associated symptoms and findings may be extremely variable from case to case. However, the disorder is typically associated with moderate to severe mental retardation. Some affected individuals may also have relatively mild, nonspecific physical (i.e., dysplastic) features, whereas others may have more distinctive, potentially severe physical abnormalities. According to reports in the medical literature, common findings include diminished muscle tone (hypotonia) and motor incoordination; an unsteady manner of walking (gait); pronounced verbal delays; and/or certain malformations of the skull and facial (craniofacial) region. Such craniofacial abnormalities may include an unusually small head (microcephaly); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); unusually large ears; and/or other malformations. Chromosome 22 Ring is usually caused by spontaneous or "de novo" errors very early in the development of the embryo that appear to occur randomly for unknown reasons.
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Organizations related to Chromosome 22 Ring
- Arc
1660 L Street, NW, Suite 301
Washington DC 20036
Phone #: 202-534-3700
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org
- Chromosome 22 Central
338 Spruce Street North
Timmins
Ontario Intl P4N 6N5
Phone #: 705--26-8-3099
800 #: --
e-mail: steph.stpierre@c22c.org
Home page: http://www.c22c.org
- Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton FL 33429-0724
Phone #: 561-395-4252
800 #: N/A
e-mail: info@chromodisorder.org
Home page: http://www.chromodisorder.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- Ring Chromosome 22 E-Mail Discussion List
609 West Minnesota Street
St. Joseph MN 56374
Phone #: 320-271-1720
800 #: --
e-mail: r22-request@maelstrom.stjohns.edu
Home page: http://maelstrom.stjohns.edu/archives/r22.html
- UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Caterham
Surrey Intl CR3 5GN
Phone #: 44 -0 1-883 330766
800 #: --
e-mail: info@rarechromo.org
Home page: http://www.rarechromo.org
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