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There are several types of genetic disorders. The way in which the disorder is inherited can help determine the risks it will have on a pregnancy and the risk of recurrence it will recur in future children. Risks for having a baby with a birth defect from a genetic abnormality may be increased when:
The parents have another child with a genetic disorder.
There is a family history of a genetic disorder.
One parent has a chromosomal abnormality.
The fetus has abnormalities seen on ultrasound.
What are the types of genetic disease?
The following are the different types of genetic diseases:
Chromosomal abnormalities
Single gene defects
Multifactorial problems
Teratogenic problems
What are chromosomal abnormalities?
Chromosomal abnormalities in the baby may be inherited from the parent or may occur with no family history. The following chromosomal problems are the most common:
Aneuploidy. More or fewer chromosomes than the normal number, including:
Down syndrome (trisomy 21). Cells contain three #21 chromosomes.
Turner syndrome. One of the two sex chromosomes is not transferred, leaving a single X chromosome, or 45 total.
Deletion. Part of a chromosome is missing, or part of the DNA code is missing.
Inversion. When a chromosome breaks and the piece of the chromosome turns upside down and reattaches itself. Inversions may or may not cause birth defects depending on their exact structure.
Translocation. A rearrangement of a chromosome segment from one location to another, either within the same chromosome or to another.
Balanced translocation. The DNA is equally exchanged between chromosomes, and none is lost or added. A parent with a balanced translocation is healthy, but he or she may be at risk for passing unbalanced chromosomes in a pregnancy.
Robertsonian translocation. A balanced translocation in which one chromosome joins the end of another.
Mosaicism. The presence of two or more chromosome patterns in the cells of a person, resulting in two or more cell lines (for example, some with 46 chromosomes, others with 47).
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