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Familial balanced (7;11;21) translocation and Down's syndrome in two siblings.

作者信息

Schwinger E, Mikkelsen M, Niesen M

出版信息

Clin Genet. 1975 Apr;7(4):304-7. doi: 10.1111/j.1399-0004.1975.tb00333.x.

DOI:10.1111/j.1399-0004.1975.tb00333.x
PMID:123836
Abstract

Cytogenetic studies of a family with two children with Down's syndrome have revealed a balanced reciprocal translocation between chromosomes No. 7, 11 and 21 in the mother. One of three daughters has inherited this translocation. two mongoloid daughters have a supernumerary chromosome No. 21 in addition to the translocation.

摘要

相似文献

1
Familial balanced (7;11;21) translocation and Down's syndrome in two siblings.
Clin Genet. 1975 Apr;7(4):304-7. doi: 10.1111/j.1399-0004.1975.tb00333.x.
2
Reciprocal translocation, 4q-; 21p+, giving rise to Down's syndrome.相互易位,4号染色体长臂缺失;21号染色体短臂增加,导致唐氏综合征。
J Med Genet. 1976 Aug;13(4):323-6. doi: 10.1136/jmg.13.4.323.
3
Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9;21)(p11;q11).由于母亲的相互易位rcp(9;21)(p11;q11)出现不同的3:1分离,导致兄弟姐妹中出现9号染色体短臂三体和异常易位型唐氏综合征。
Hum Genet. 1978 Jun 27;42(3):251-6. doi: 10.1007/BF00291304.
4
De novo translocation Down's syndrome: risk of recurrence of Down's syndrome.
Clin Genet. 1974;6(3):160-4. doi: 10.1111/j.1399-0004.1974.tb00646.x.
5
Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother.一名患有唐氏综合征的儿童出现Dic(21;21),其母亲有异常的9号染色体变异。
J Med Genet. 1980 Apr;17(2):144-8. doi: 10.1136/jmg.17.2.144.
6
Rare translocation 47,XY,t(12;21) in Down's syndrome.唐氏综合征中罕见的47,XY,t(12;21)易位
Hum Hered. 1974;24(2):160-6. doi: 10.1159/000152648.
7
Familial translocation t(3p-;21q+) associated with both Down's and Sturge-Weber's syndrome in unbalanced state.家族性易位t(3p-;21q+),处于不平衡状态,与唐氏综合征和斯特奇-韦伯综合征均相关。
Humangenetik. 1975 Sep 23;29(3):207-16. doi: 10.1007/BF00297625.
8
Probable reciprocal translocation in somatic cells from patients with Down's syndrome.唐氏综合征患者体细胞中可能存在的相互易位。
Jinrui Idengaku Zasshi. 1974 Sep;19(2):169-73.
9
A boy with trisomic Down's syndrome and a familial 5-?7 translocation, 47,XY,+21, t (5q-; ?7p+).一名患有三体性唐氏综合征且伴有家族性5;7易位的男孩,核型为47,XY,+21,t(5q-;7p+) 。
Jinrui Idengaku Zasshi. 1972 Sep;17(1):38-43.
10
A familial tandem translocation (15;21) (q11;q22) in a case of Down's syndrome.
J Ment Defic Res. 1976 Sep;20(3):171-8. doi: 10.1111/j.1365-2788.1976.tb00941.x.

引用本文的文献

1
Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations.6号、7号、8号和12号染色体复杂重排在三代人中的分离情况。
Hum Genet. 1981;58(2):221-5. doi: 10.1007/BF00278717.
2
A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility.一名表现为不育的表型正常男性中涉及三条常染色体的复杂重排。
J Med Genet. 1982 Oct;19(5):375-7. doi: 10.1136/jmg.19.5.375.
3
A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.
一名轻度智力发育迟缓儿童发生涉及四条染色体和五个断点的复杂双易位。
J Med Genet. 1983 Oct;20(5):389-92. doi: 10.1136/jmg.20.5.389.
4
Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination.涉及7号、8号和9号染色体的家族性复杂常染色体易位,呈现男女传递,并伴有分离和重组。
J Med Genet. 1985 Dec;22(6):484-91. doi: 10.1136/jmg.22.6.484.
5
Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement.一名患有复杂染色体重排患儿的产前诊断及随访
J Med Genet. 1986 Apr;23(2):180-3. doi: 10.1136/jmg.23.2.180.
6
Partial trisomy 11,46,XX,-3,-20, + der3, + der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20.11号染色体部分三体,46,XX,-3,-20,+der3,+der20,t(3;11;20),源于母亲3号、11号和20号染色体的复杂重排。
Hum Genet. 1976 Feb 29;31(2):219-25. doi: 10.1007/BF00296149.