Trisomy Sentence Examples

trisomy
  • Parental chromosome analysis should be offered where trisomy 13 is due to an unbalanced translocation.

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  • Examples of such accidents are development of an extra chromosome 18 (trisomy 18) and Down syndrome.

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  • Patau syndrome, also called trisomy 13, is a congenital (present at birth) disorder associated with the presence of an extra copy of chromosome 13.

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  • Patau syndrome is named for Klaus Patau, who reported the syndrome and its association with trisomy in 1960.

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  • A condition called trisomy occurs when three, instead of two, copies of a chromosome are present in a developing human embryo.

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  • The most well-known trisomy-related disorder is Down syndrome (trisomy 21), in which the developing embryo has an extra copy of chromosome 21.

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  • Patau syndrome is trisomy 13, in which the developing embryo has three copies of chromosome 13.

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  • Full trisomy 13, which is present in the majority of the cases, results in the most severe and numerous internal and external abnormalities.

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  • Frequently, a child with trisomy 13 has a cleft lip, a cleft palate, or both.

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  • Partial trisomy of the proximal segment of chromosome 13 is much less likely to be fatal and has been associated with a variety of facial features including a large nose, a short upper lip, and a receding jaw.

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  • Trisomy 13 is confirmed by examining the infant's chromosomal pattern through karyotyping or another procedure.

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  • Approximately 45 percent of trisomy 13 babies die within their first month of life; up to 70 percent in the first six months; and over 70 percent by one year of age.

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  • Edwards' syndrome is also referred to as trisomy 18, trisomy E, and trisomy 16-18.

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  • It is the second most common trisomy, after trisomy 21 (Down syndrome).

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  • Down syndrome is a condition that includes mental retardation and a distinctive physical appearance linked to an abnormality of chromosome 21 (called trisomy 21).

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  • It also is associated with Down syndrome (trisomy 21).

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  • Some brain defects are caused by trisomy, the inclusion of a third copy of a chromosome normally occurring in pairs.

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  • Trisomy of chromosome 9 can cause some cases of Dandy-Walker and Chiari II malformation.

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  • Some cases of holoprosencephaly are caused by trisomy of chromosome 13, while others are due to abnormalities in chromosomes 7 or 18.

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  • Called nuchal translucency, the measurement tends to be larger in fetuses with genetic abnormalities such as Down syndrome, trisomy 13, trisomy 18, Turner syndrome, and triploidy.

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  • For this reason, the existence of three such chromosomes is sometimes referred to as trisomy 21.

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  • The blood test given during the first trimester screening is for chromosomal abnormalities in the baby, including Down's Syndrome (trisomy 21), Edwards Syndrome (trisomy 18), skeletal defects, or heart defects.

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  • Alterations in chromosomes causing Down syndrome and Trisomy 18 birth defects are considered structural genetic birth defects.

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  • Where trisomy 18 is caused by an unbalanced chromosomal translocation, chromosomal analysis should be carried out on both parents.

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