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接受兵役检查的男性中的D-D易位。

D-D translocations in males examined for military service.

作者信息

Zeuthen E, Nielsen J

出版信息

J Med Genet. 1973 Dec;10(4):356-61. doi: 10.1136/jmg.10.4.356.

DOI:10.1136/jmg.10.4.356
PMID:4129971
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013056/
Abstract

Three males with Robertsonian translocations were found in a sample of 1115 males examined for military service. One was a 14/15 translocation, and two were 13/14 translocations. One was spontaneous and two familial. The segregation rate of the translocations did not deviate significantly from unity in the sibships where the mother was the carrier, whereas all five children had the translocation in the two sibships where the father was the carrier. There were no abortions and no aneuploid chromosome abnormalities in the progeny of carriers with D/D translocation. There were no indications of any association between the D/D translocations and physical or mental development.

摘要

在1115名接受兵役检查的男性样本中发现了3名患有罗伯逊易位的男性。其中1名是14/15易位,2名是13/14易位。1例为自发的,2例为家族性的。在母亲为携带者的同胞中,易位的分离率与预期值无显著偏差,而在父亲为携带者的两个同胞中,所有5个孩子都有易位。D/D易位携带者的后代中没有流产和非整倍体染色体异常。没有迹象表明D/D易位与身体或智力发育之间存在任何关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d100/1013056/0818085a73b8/jmedgene00325-0051-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d100/1013056/31737785b0f4/jmedgene00325-0050-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d100/1013056/a1c878276a0f/jmedgene00325-0050-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d100/1013056/0818085a73b8/jmedgene00325-0051-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d100/1013056/31737785b0f4/jmedgene00325-0050-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d100/1013056/a1c878276a0f/jmedgene00325-0050-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d100/1013056/0818085a73b8/jmedgene00325-0051-a.jpg

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1
D-D translocations in males examined for military service.接受兵役检查的男性中的D-D易位。
J Med Genet. 1973 Dec;10(4):356-61. doi: 10.1136/jmg.10.4.356.
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[Chromosomic identification in Robertsonian translocations by a banding technic].
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引用本文的文献

1
A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members.一名患有普拉德-威利综合征且有罗伯逊易位45,XX,t(14;15)(p11;q11)的女孩,该易位存在于三名正常家庭成员中。
Hum Genet. 1980;55(2):271-3. doi: 10.1007/BF00291777.
2
Association of D/D translocations with fetal wastage and aneuploidy. A report of four families.D/D易位与胎儿丢失及非整倍体的关联。四个家族的报告。
J Med Genet. 1976 Oct;13(5):389-93. doi: 10.1136/jmg.13.5.389.

本文引用的文献

1
FAMILIAL D~D TRANSLOCATION. REPORT OF A PEDIGREE AND DNA REPLICATION ANALYSIS.家族性D~D易位。一个家系报告及DNA复制分析
N Engl J Med. 1964 Nov 26;271:1133-7. doi: 10.1056/NEJM196411262712203.
2
MEIOSIS IN A MAN WITH A D/D TRANSLOCATION AND CLINICAL STERILITY.一名患有D/D易位和临床不育症男性的减数分裂
Lancet. 1964 Jun 27;2(7348):1421-3. doi: 10.1016/s0140-6736(64)91989-0.
3
Testicular size: assessment and clinical importance.睾丸大小:评估及临床意义。
Triangle. 1966;7(6):240-3.
4
A chromosome survey of 2,400 normal newborn infants.对2400名正常新生儿的染色体调查。
J Pediatr. 1969 Mar;74(3):438-48. doi: 10.1016/s0022-3476(69)80202-7.
5
The inheritance of translocations in man: data from families ascertained through a balanced heterozygote.人类易位的遗传:通过平衡杂合子确定的家系数据。
Ann Hum Genet. 1970 Oct;34(2):119-36. doi: 10.1111/j.1469-1809.1970.tb00226.x.
6
Chromosomal abnormalities in the human population: estimation of rates based on New Haven newborn study.人类群体中的染色体异常:基于纽黑文新生儿研究的发生率估计
Science. 1970 Jul 31;169(3944):495-7. doi: 10.1126/science.169.3944.495.
7
[Study of progeny of individuals bearing a t(DqDq) translocation].[对携带t(DqDq)易位的个体后代的研究]
Ann Genet. 1970 Mar;13(1):11-8.
8
Fertility in balanced heterozygotes for a familial centric fusion translocation, t(DgDg).家族性着丝粒融合易位t(DgDg)平衡杂合子的生育力。
J Med Genet. 1971 Jun;8(2):175-8. doi: 10.1136/jmg.8.2.175.
9
Chromosome studies in a neonatal population.新生儿群体的染色体研究。
Can Med Assoc J. 1972 Apr 8;106(7):776-9.
10
The chromosomal constitution of 165 human translocations involving D group chromosomes identified by autoradiography.通过放射自显影鉴定的165例涉及D组染色体的人类易位的染色体组成。
Ann Genet. 1971 Jun;14(2):87-96.