Chromosome 2p Duplication
2 Duplication Syndrome, Chromosome 2 Duplication, Chromosome Two Duplication, Chromosome 2 Duplication Disease, Two Duplication Syndrome, Chromosome Two Duplication Syndrome
Type of disease: Rare conditions
2p duplications fall into a category of chromosome disorders in which a segment of chromosome 2 is duplicated or copied. This means instead of two copies of the genes in this segment, each cell of the body now has three copies. These extra copies of genetic information may cause multiple birth defects and developmental issues. Duplications generally arise by random chance (de novo), but also can be the result of inheriting a chromosome error from the parents.
Individuals with 2p duplications generally have a similar appearance of a prominent forehead, a triangular shaped mouth, wide spaced eyes, slanted back ears, and a thin upper lip. This appearance, in addition to slow body growth and feeding difficulties, typically alerts the parents that someone might be wrong. The condition is officially diagnosed with a genetic test that allows the specialist to see that a specific portion of the chromosome is duplicated.
Symptoms of 2p duplications may include developmental delays, intellectual difficulties, communication difficulties, difficulties with gross and fine motor skills, and heart and breathing (respiratory) issues. There are other symptoms that are associated with 2p duplications, but they vary widely between different individuals. Affected individuals may have trouble communicating with spoken (verbal) language, and will resort to using nonverbal language, like hand gestures, instead. Parents generally find their affected children to be very warm, friendly, and a joy to be around. It is also possible for adults with this condition to live a relatively normal life, with some assistance.
Although there is currently no cure for 2p duplications, there are various resources to help manage the condition and treat birth defects. Support groups are a great resource for support and information. Talk with a genetic counselor or specialist if you or someone in your family has been diagnosed with a 2p duplication.