Results 1 -
6
of
6
for
down syndrome
- ... in cells instead of the normal two copies. Down syndrome (also known as trisomy 21) is an example of a condition caused by trisomy . People with Down syndrome typically have three copies of chromosome 21 in ...
- ... disease ) or in the nonpossessive form (e.g., Down syndrome ). The HUGO Gene Nomenclature Committee (HGNC) designates an ...
- ... be born with certain genetic abnormalities, such as Down syndrome and other chromosomal disorders. Newborn screening : In the ...
- ... aneuploidy ) of a chromosome. NIPT primarily looks for Down syndrome (trisomy 21, caused by an extra chromosome 21 ), ...
- ... of chromosomal abnormalities, most chromosomal disorders (such as Down syndrome and Turner syndrome ) are not passed from one ...
- ... disorder in their family. Huntington's disease , Marfan syndrome Autosomal recessive In autosomal recessive inheritance , variants occur ... sons (no male-to-male transmission). fragile X syndrome X-linked recessive X-linked recessive disorders are ...
