Genetics

Disorders Caused by Defects in Chromosome 11



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What is chromosome 11? Human beings have 23 pairs or chromosomes in each cell. There are two 11 chromosomes - one from each parent. It is estimated that chromosome 11 contains about 1,500 genes that perform a variety of functions in the body, 150 of which relate to the sense of smell. There are many genetic conditions that can be related to chromosome 11 and there are several genetic disorders that can be traced back to a lack in chromosome 11.

Beckwith-Wiedemann Syndrome can affect many different parts of the body. When babies are born with this disease it is likely that there will be several problems evident such as an abnormally large tongue and what is considered an opening in the stomach wall. This opening allows the abdominal organs to protrude from the stomach area. This disease can also be recognized by the fact that the affected person will have an unusual growth cycle until reaching about the age of eight; once the age of eight is reached, however, the rate of growth slows. Unfortunately children with this disease are more prone to certain types of cancerous tumors.

Emanuel Syndrome is a disorder that can cause disruption to the growing process. Some infants born with this disease have problems gaining weight but more dangerous is the chance that these babies will be born with either no kidneys or unusually small ones and the chance of heart defects is increased. There is also the possibility that the child can be born with an abnormally small head and jaw and be severely or profoundly intellectually disabled. Almost half of all babies born with this disease are born with a cleft palate or a highly arched palate. This is however a very rare disorder and a little over 100 cases have been reported.

Jacobsen Syndrome is caused by a loss of genetic material and can cause developmental delays including motor skills and may also cause several behavioral issues. Many children with this disease are often diagnosed with Attention Deficit Hyperactivity Disorder or ADHD. Up to 90 percent of people who suffer Jacobsen syndrome are also plagued by a blood disorder called Paris-Trousseau syndrome. This causing easy bruising and abnormal bleeding, Paris-Trousseau syndrome is a platelet disorder that causes the blood not to clot correctly.

There are several other disorders that can be caused by a defect in chromosome 11 such as neuroblastoma and Russel-Silver syndrome if you feel it is possible that someone you know has a possibility of having a disorder caused by a defect in chromosome 11 contact your physician.

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ARTICLE SOURCES AND CITATIONS
  • InfoBoxCallToAction ActionArrowhttp://archive.eurordis.org/IMG/pdf/voice_12000_patients/DIS_Chromosome_11_disorders.pdf
  • InfoBoxCallToAction ActionArrowhttp://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002168/
  • InfoBoxCallToAction ActionArrowhttp://www.wrongdiagnosis.com/e/emanuel_syndrome/intro.htm
  • InfoBoxCallToAction ActionArrowhttp://www.ncbi.nlm.nih.gov/pubmed/19267933
  • InfoBoxCallToAction ActionArrowhttp://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002381/