Chromosome 3, Trisomy 3q2
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Chromosome 3, Trisomy 3q2 is not the name you expected.
Chromosome 3, Trisomy 3q2 is a rare chromosomal disorder in which a portion of the 3rd chromosome appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may be variable, depending upon the specific length and location of the duplicated (trisomic) portion of chromosome 3. However, many affected infants and children have developmental delays, mental retardation, and characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance. Such craniofacial abnormalities may include a relatively short head (brachycephaly), widely spaced eyes (ocular hypertelorism), upwardly slanting eyelid folds (palpebral fissures), and a small nose with upturned nostrils (anteverted nares). Affected infants and children also tend to have long eyelashes; arched, bushy, well-defined eyebrows that grow together across the base of the nose (synophrys), an unusually low hairline on the forehead and the back of the neck; and generalized excessive hair growth (hirsutism). Chromosome 3, Trisomy 3q2 may also be characterized by eye (ocular) abnormalities, limb defects, structural heart malformations (congenital heart defects), or other physical features.
Genetic and Rare Diseases (GARD) Information Center
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Support Organization for Trisomy 18, 13, and Related Disorders
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UNIQUE - Rare Chromosome Disorder Support Group
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Last Updated: 5/15/2008
Copyright 2003 National Organization for Rare Disorders, Inc.
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