trisomy 21 उदाहरण वाक्य

On October 24, 2011 International Society of Prenatal Diagnostics ( ISPD ) issued a rapid response statement in response to the launch of Sequenom non-invasive Trisomy 21 ( MaterniT21 ) test.
This type of congenital heart defect is associated with patients with Down syndrome ( trisomy 21 ) or heterotaxy syndromes . 45 % of children with Down syndrome have congenital heart disease.
Using massive parallel sequencing, a study testing for trisomy 21 only, successfully detected 209 of 212 cases ( 98.6 % ) with 3 false-positives in 1, 471 pregnancies ( 0.2 % ).
Trisomy 21 is the cause of approximately 95 % of observed Down syndrome, with 88 % coming from nondisjunction in the maternal gamete and 8 % coming from nondisjunction in the paternal gamete.
:" Mongolism " is the obsolete and offensive terminology for Down's syndrome or trisomy 21, so it has nothing to do with dominance ( or race ), it's a variation in chromosome number.

For example, Jiang " et al . " inserted a copy of the Xist gene into one copy of chromosome 21 in stem cells derived from an individual with trisomy 21 ( Down's syndrome ).
Trisomy 21 ( Down syndrome ) : People with Down syndrome have a finger print pattern with mainly ulnar loops, and a significantly different angle between the triradia a, t and d ( the'adt angle').
The companies agreed to collaborate in the development and launch of a trisomy 21 laboratory-developed test and other aneuploidies testing in Germany, Austria, Switzerland, and Liechtenstein, with the potential for additional launches in other countries.
Crookshanks'theories were refuted entirely by the trisomy 21 discoveries of 1959 that defined the genetic defect causing Down Syndrome, although the term " Mongolism " Crookshanks'contributions to its stigmatization took several decades to fade away entirely.
Despite several decades of inaction and resistance, the term thereafter began to fade from use, in favor of the term such as " Down's Syndrome ", " Down syndrome " and " Trisomy 21 disorder ".