单词 | cri du chat syndrome |
释义 | cri du chat syndromen. Medicine. A rare congenital disorder resulting from deletion of part of the short arm of chromosome 5, characterized by microcephaly, facial abnormalities, severe mental retardation, and (in infants) a distinctive high-pitched mewing cry. ΘΚΠ the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun] amyelia1865 amelia1872 congenital myotonia1886 myotonia congenita1887 Thomsen's disease1890 von Recklinghausen's disease1899 pseudoxanthoma1900 Werdnig–Hoffmann1903 myotonia atrophica1908 Fröhlich1909 Milroy's disease1909 Lindau disease1928 Steinert's disease1932 von Hippel–Lindau disease1932 Werner's syndrome1934 Sturge–Weber syndrome1935 gargoylism1936 Morgagni's syndrome1936 Hurler's disease1937 von Willebrand1941 Turner1942 autism1944 hypophosphatasia1948 Klinefelter1950 mucopolysaccharidosis1952 progeria1957 Pendred1960 Down's syndrome1961 Patau's syndrome1961 Marinesco–Sjögren syndrome1962 cri du chat syndrome1964 Prader–Willi syndrome1964 Noonan syndrome1965 Lesch-Nyhan syndrome1966 Wernicke–Korsakoff1966 Down1967 mannosidosis1969 mucolipidosis1970 Asperger's syndrome1971 Angelman syndrome1972 adrenoleukodystrophy1973 SCID1973 severe combined immune deficiency1973 Miller–Dieker syndrome1980 Asperger1988 Asperger's disorder1994 1964 Cytogenetics 3 347 The aberrant member of Group 4–5 in the cri du chat syndrome has been called a No. 5. 1969 G. W. Burns Sci. Genetics xii. 220 Probably the best known disorder to be associated definitely with a chromosomal deficiency in man is the ‘cri du chat’ or cat-cry syndrome described by Le Jeune (1963). 1992 Cambr. Encycl. Human Evol. (1994) vii. iv. 277/2 Loss of one [gene] copy by deletion leads to malformation or embryonic death. The best-known example of this in humans is the cri du chat syndrome. 2002 Guardian 2 Oct. (Society section) 4/4 Whiley speaks rarely of her younger sister, who has Cri du chat syndrome. This is a new entry (OED Third Edition, November 2010; most recently modified version published online March 2022). < n.1964 |
随便看 |
英语词典包含1132095条英英释义在线翻译词条,基本涵盖了全部常用单词的英英翻译及用法,是英语学习的有利工具。