Tay-Sachs disease

noun

ˈtā-ˈsaks- How to pronounce Tay-Sachs disease (audio)

variants or Tay-Sachs

: a hereditary disorder of lipid metabolism typically affecting individuals of eastern European Jewish ancestry that is marked by the accumulation of lipids especially in nerve cells of the brain due to a deficiency of hexosaminidase and that is characterized by weakness, exaggerated startle response to sudden noise, diminished muscle tone, red retinal spots, macrocephaly, gradual loss of hearing and vision, deterioration of cognitive abilities and motor skills, seizures, paralysis, and death in early childhood

Note: Tay-Sachs disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.

… if they both had the recessive gene and ever had a baby, there was a one in four chance the baby would have Tay-Sachs disease.

Barbara Mahany

In peoples around the world Tay-Sachs appears once in every 400,000 births. But it appears a hundred times more frequently—about once in 3,600 births—among descendants of Eastern European Jews, people known as Ashkenazim.

Jared Diamond

Word History

Etymology

Warren Tay †1927 British physician & Bernard P. Sachs †1944 American neurologist

First Known Use

1906, in the meaning defined above

单词	Tay-Sachs disease
释义	Tay-Sachs disease noun ˈtā-ˈsaks- variants or Tay-Sachs : a hereditary disorder of lipid metabolism typically affecting individuals of eastern European Jewish ancestry that is marked by the accumulation of lipids especially in nerve cells of the brain due to a deficiency of hexosaminidase and that is characterized by weakness, exaggerated startle response to sudden noise, diminished muscle tone, red retinal spots, macrocephaly, gradual loss of hearing and vision, deterioration of cognitive abilities and motor skills, seizures, paralysis, and death in early childhood Note: Tay-Sachs disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. … if they both had the recessive gene and ever had a baby, there was a one in four chance the baby would have Tay-Sachs disease. Barbara Mahany In peoples around the world Tay-Sachs appears once in every 400,000 births. But it appears a hundred times more frequently—about once in 3,600 births—among descendants of Eastern European Jews, people known as Ashkenazim. Jared Diamond Word History Etymology Warren Tay †1927 British physician & Bernard P. Sachs †1944 American neurologist First Known Use 1906, in the meaning defined above Medical Definition Tay-Sachs disease noun ˈtā-ˈsaks- variants or Tay-Sachs : a hereditary disorder of lipid metabolism typically affecting individuals of eastern European Jewish ancestry that is marked by the accumulation of lipids especially in nerve cells of the brain due to a deficiency of hexosaminidase A and that is characterized by weakness, exaggerated startle response to sudden noise, diminished muscle tone, red retinal spots, macrocephaly, gradual loss of hearing and vision, deterioration of cognitive abilities and motor skills, seizures, paralysis, and death in early childhood Note: Tay-Sachs disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. Tay-Sachs disease occurs as an autosomal recessive disorder in about 1 in 3600 infants of Ashkenazi Jewish parents, although cases have been reported in French-Canadians, Pennsylvania Dutch, and French-Acadian populations. Nelson A. Wivel and LeRoy Walters, Science
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Tay-Sachs disease

noun

Word History

Medical Definition

noun