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Down Syndrome

more about Down Syndrome


Trisomy 21



  • This is a common genetic condition in which a variety of abnormalities of chromosome # 21 can result in the same syndrome in which the patient's intelligence is likely below average, to some degree.
  • The patient usually has a typical facial appearance with the following:
    1. A special kind of eyelid fold in the corner of each eye where it meets the nose
    2. Distinctive spots on the irises of the eyes
    3. The back of the head is flat.
  • Usually the child is hypotonic at birth, has developmental delay, and is small for age, lifelong.
  • Many Down syndrome children have congenital heart disease.

  • As listed above, mainly developmental delay, a tendency toward impaired intellect to some degree, hypotonia, and certain other physical characteristics.
  • Many of the patients have symptoms of congenital heart disease, Hypothyroidism, joint symptoms, and other physical problems that need attention.

  • An abnormality of chromosome # 21, which is one of the autosomal chromosomes governing the body in general, and not one of the sex chromosomes (see definition of "autosomal," below).
  • Most but not all of the Down syndrome patients have three separate units of the # 21 chromosome instead of the normal two units of this.  In other cases, the genetic material of the extra # 21 chromosome is attached to another autosomal chromosome, so one does not see three separate units of # 21 under the microscope.
  • Some patients have this duplicated genetic material in only some of their body cells, but they still have the clinical features of Down syndrome.
  • Autosomal chromosomes are those that are found paired in both a normal male and a normal female; each of whom will have two identically-shaped # 21 chromosomes.  The sex chromosomes are different: normal males have what is called an X and Y, but normal females have two of the X's.
  • The normal person has 23 sets of paired chromosomes and the sex chromosomes are numbered as pair # 23.  The # 23 "pair" in a male is XY, but in a female is XX.  The chromosome pair affected in Down syndrome is numbered # 21.

  • The diagnosis is proven by the combination of the physical findings and the positive chromosomal analysis, which shows particular findings in chromosome # 21.
  • Some cases may be suspected during the mother's current pregnancy, by running certain chemical tests on maternal blood.  If these blood tests show the mother is at high risk for a Down syndrome baby with this pregnancy, an amniotic fluid sample musct be taken.  Then, a chromosome analysis is done on fetal cells that are shed into the amniotic fluid, to look at material from fetal chromosome # 21.  It is also possible to collect fetal cells from the fetal portion of the placenta, to look at fetal chromosome # 21.  These tests have a small possibility of error.
  • The tests on the maternal blood are alpha-fetoprotein (AFP); unconjugated estriol (uE3); and human chorionic gonadotropin (hCG).  Results of these 3 tests are coupled with the maternal age and the estimated fetal age, to calculate the mother's risk of a Down syndrome baby.

  • Advanced maternal age increases the risk of Down syndrome.

  • Surgical repair, or other treatment, of the congenital heart defect
  • Special education, physical therapy, occupational therapy, and speech therapy, may all be of great help.

  • Complications of individual organ systems may occur, because of congenital abnormalities.

  • Contact your physician for assessment and chromosomal analysis.  Discuss with your physician what physical characteristics suggest Down syndrome: unusual eyelid folds, spots on the irises, flattening of the back of the head, delayed development.

  • Hypotonic infants with certain facial characteristics might resemble patients with Down syndrome.




more about Down Syndrome


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