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.
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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.
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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 % ).
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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.
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:" 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.
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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 ).
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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').
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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.
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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.
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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 ".
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