21-22 translocation Down's syndromea family with unusual segregating patterns.
作者信息
Yang S J, Rosenberg H S
出版信息
Am J Hum Genet. 1969 May;21(3):248-51.
Abstract
摘要
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21-22 translocation Down's syndromea family with unusual segregating patterns.21号与22号染色体易位型唐氏综合征：一个具有异常分离模式的家系
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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。
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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。
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引用本文的文献
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Mosaicism with a normal cell line and an autosomal structural rearrangement.具有正常细胞系和常染色体结构重排的嵌合体现象。
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Translocation 21q22q in an infertile human male.一名不育男性中的21号染色体长臂2区2带易位
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Recurrence risks for Down syndrome.
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本文引用的文献
1
Primary cultivation and continuous propagation in vitro of tissues from small biopsy specimens.小活检标本组织的原代培养及体外连续传代
J Natl Cancer Inst. 1960 Aug;25:221-35.
2
CYTOGENETICS OF DOWN'S SYNDROME (MONGOLISM). 3. FREQUENCY OF INTERCHANGE OF TRISOMICS AND MUTATION RATE OF CHROMOSOME INTERCHANGES.
Cytogenetics. 1965;4:193-206. doi: 10.1159/000129855.
3
Familial mongolism.家族性先天愚型
Cytogenetics. 1962;1:141-79. doi: 10.1159/000129726.
4
The transmission of G/G translocation.G/G易位的传递
Lancet. 1963 May 25;1(7291):1163. doi: 10.1016/s0140-6736(63)91843-9.
5
Differential transmission of Down's syndrome (mongolism) through male and female translocation carriers.唐氏综合征（先天愚型）通过男性和女性易位携带者的差异传递。
Lancet. 1961 Oct 28;2(7209):956-8. doi: 10.1016/s0140-6736(61)90795-4.
6
Mongolism in three siblings with 46 chromosomes.
N Engl J Med. 1962 Mar 29;266:631-5. doi: 10.1056/NEJM196203292661301.
7
Chromosome preparations of leukocytes cultured from human peripheral blood.从人外周血培养的白细胞的染色体标本制备。
Exp Cell Res. 1960 Sep;20:613-6. doi: 10.1016/0014-4827(60)90138-5.
8
Familial mongolism due to 21/22 chromosome translocation.由于21/22号染色体易位导致的家族性先天愚型。
JAMA. 1967 May 22;200(8):722-3.
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