Effects of Trisomy 11

Trisomy 11 is one of a variety of trisomy disorders that are genetic in their origin.  A trisomy is when a chromosomal abnormality occurs at a specific location in the double helix of DNA.  In the case of trisomy 11, that chromosomal abnormality occurs at the 11th out of 23 pairs.  A true trisomy involves having three of the chromosomes of that type instead of two.  A partial trisomy involves having an extra copy of a portion of that chromosome present.

People afflicted with trisomy 11 can exhibit any number of signs or symptoms ranging from the barely perceptible to starkly visible.  The National Institute of Health lists no less than 57 different diseases or conditions that arise as a consequence of some form of trisomy 11.  Again, the severity of the signs or symptoms and the impact they have on the life of the person vary from barely perceptible to non-survivable.  For Trisomy 11q disorders, only one of a number of different trisomy 11 disorders, there are 56 signs and symptoms alone.*

While there are any number of effects that can be attributed to trisomies, because these are disorders that are at the very base of cell replication, cancers tend to be more prevalent in these people.  Wilm’s tumor (a kidney cancer), and Ewings sarcoma (a cancer of the bones and soft tissue) are associated with trisomy 11.  Trisomy 11 patients also have a higher incidence of lymphoma and leukemia.

There are a number of physical anomalies that occur with trisomy 11.  Facial abnormalities such as cleft lip, cleft palate, an abnormally large or small head, an under-sized jaw, widely spaced eyes and a short, flat, broad nose are just of the most easily recognizable features of a person afflicted with trisomy 11.

Persons who have trisomy 11 frequently endure failure to thrive as infants.  They may have markedly delayed development.  Their muscle tone may be poor, and they may exhibit considerable delay in their ability to sit up-right or perform other sensory-motor activities.  They may have varying degrees of mental retardation.  Trisomy 11 patients can be born with a variety of herniations (protrusion of an organ or body part from one cavity or space to another), particularly in the abdomen.

While a confirmed diagnosis of trisomy 11 may seem like fatal one, nothing can be further from the truth.  With proper ongoing medical consultation and appropriate intervention, many trisomy 11 patients live full and happy lives onto old age.