唐氏综合征伴源自G组一条染色体家族性臂间倒位的非典型G-G易位。 - Suppr

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超能文献

Down's syndrome with an atypical G-G translocation derived from familial pericentric inversion in one chromosome of the G group.

作者信息

Morić-Petrović S, Laća Z, Kalicanin P

出版信息

J Med Genet. 1972 Dec;9(4):478-82. doi: 10.1136/jmg.9.4.478.

DOI:10.1136/jmg.9.4.478

PMID:4265015

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1469056/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d59/1469056/f94fda6db356/jmedgene00363-0096-a.jpg

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Down's syndrome with an atypical G-G translocation derived from familial pericentric inversion in one chromosome of the G group.唐氏综合征伴源自G组一条染色体家族性臂间倒位的非典型G-G易位。

J Med Genet. 1972 Dec;9(4):478-82. doi: 10.1136/jmg.9.4.478.

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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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Familial transmission of a (21q22q) translocation.

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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。

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引用本文的文献

Structural differences in pericentric inversions. Application to a model of risk of recombinants.着丝粒周围倒位的结构差异。应用于重组风险模型。

Hum Genet. 1981;56(3):321-8. doi: 10.1007/BF00274687.

Paracentric inversion of a human chromosome 7.人类7号染色体的臂内倒位。

Hum Genet. 1976 Jan 28;31(1):1-7. doi: 10.1007/BF00270393.

Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.18号染色体臂间倒位携带者的两名后代出现18号染色体部分单体和部分三体。

J Med Genet. 1976 Oct;13(5):366-70. doi: 10.1136/jmg.13.5.366.

A fetus with recombinant of chromosome 8 inherited from her carrier father.一名从其携带染色体8重组的父亲那里遗传了该染色体的胎儿。

Hum Genet. 1978 Feb 16;40(3):241-8. doi: 10.1007/BF00272184.

Familial inversion of chromosome No. 8: an affected child and a carrier fetus.8号染色体家族性倒位：一名患病儿童和一名携带倒位染色体的胎儿

Humangenetik. 1975;27(1):67-73.

本文引用的文献

An unusual translocation in a case of Mongolism.一例先天愚型患者中的一种罕见易位。

J Pediatr. 1963 Feb;62:225-9. doi: 10.1016/s0022-3476(63)80396-0.

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.

Inherited pericentric inversion of chromosome no. 4.4号染色体遗传性臂间倒位。

Am J Hum Genet. 1970 Nov;22(6):679-90.

A probable pericentric inversion of a G-G translocation chromosome in a mentally retarded child with mongoloid traits.一名具有蒙古样特征的智力发育迟缓儿童中一条G-G易位染色体可能发生了臂间倒位。

Hum Hered. 1969;19(3):288-98. doi: 10.1159/000152231.

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