inherited abnormality


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inherited abnormality

any genetically determined malfunction. These fall into two main types:
  1. those controlled by single genes where, for example, a biochemical process is disrupted by faulty enzymes coded by abnormal alleles such as those causing ALBINISM (See also INBORN ERRORS OF METABOLISM). In other cases, such as SICKLE-CELL ANAEMIA, a molecule is produced that does not function in the normal way.
  2. those produced by chromosomal changes (see CHROMOSOMAL MUTATION). Here, loss or addition of parts or of whole chromosomes can have serious effects. Changes to autosomal chromosomes (see DOWN'S SYNDROME) often produce more severe effects than to sex chromosomes (see KLINEFELTER'S SYNDROME).

abnormality

1. the state of being unlike the usual condition.
2. a malformation.

inherited abnormality
a defect of anatomy or function acquired by the patient from its parents by way of inherited material passed through the germ cells from which the patient originated. See also inheritance.
References in periodicals archive ?
Marfan's Syndrome is caused by an inherited abnormality of some of the body's tissues and affects around 1 in 5,000 people.
The first is an anatomical or structural shortening, perhaps caused by a leg fracture or by an inherited abnormality.
Sickle cell disease stems from an inherited abnormality in hemoglobin -- the oxygen-carrying pigment in blood -- leading to elongated, or "sickled," red blood cells that clog the small blood vessels.