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因插入性染色体重排分离导致的家族性部分7号染色体单体性

Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement.

作者信息

Nielsen K B, Egede F, Mouridsen I, Mohr J

出版信息

J Med Genet. 1979 Dec;16(6):461-6. doi: 10.1136/jmg.16.6.461.

DOI:10.1136/jmg.16.6.461
PMID:537020
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012594/
Abstract

A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 leads to 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to three subjects who were monosomic for the involved segment of chromosome 7. The karyotypes were: 46,XX, or XY,der(7)ins(13;7) (q32;q32q34). All three subjects were mentally retarded and had minor dysmorphic features. The Kidd, Colton, and Kell blood group systems were investigated, but were not informative.

摘要

报道了一个涉及7号和13号染色体的插入型染色体重排的家系。7号染色体一段的中间缺失（7q32至34）已插入到13号染色体长臂的q32断点处。这种染色体重排的分离产生了三名7号染色体受累片段单体型的个体。核型为：46,XX或XY,der(7)ins(13;7)(q32;q32q34)。所有三名个体均智力发育迟缓且有轻微的畸形特征。对基德、科尔顿和凯尔血型系统进行了研究，但未提供有用信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81a4/1012594/4829f462e949/jmedgene00295-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81a4/1012594/309d67b8eccf/jmedgene00295-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81a4/1012594/96854d4567b8/jmedgene00295-0055-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81a4/1012594/dea830b98af8/jmedgene00295-0055-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81a4/1012594/9590c86f78dc/jmedgene00295-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81a4/1012594/4829f462e949/jmedgene00295-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81a4/1012594/309d67b8eccf/jmedgene00295-0055-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81a4/1012594/96854d4567b8/jmedgene00295-0055-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81a4/1012594/dea830b98af8/jmedgene00295-0055-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81a4/1012594/9590c86f78dc/jmedgene00295-0056-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/81a4/1012594/4829f462e949/jmedgene00295-0057-a.jpg

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本文引用的文献

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A case of?6p- chromosomal aberration.
Am J Dis Child. 1968 Jan;115(1):93-9. doi: 10.1001/archpedi.1968.02100010095019.
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Two different chromosome abnormalities resulting from a translocation carrier father.一位携带易位的父亲导致的两种不同的染色体异常。
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[Trisomy for the distal part of the short arm of the number 3 chromosome in 3 siblings. First example of chromosomal insertion: INS(7;3)(q 31;p 21 p 26)].3名同胞中3号染色体短臂远端三体。染色体插入的首例：INS(7;3)(q31;p21 p26)
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Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).1例新发rcp(7;15)(q32;q15)患者的7q32部分单体性。
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5
An interstitial deletion of chromosome 7(q35).7号染色体间质缺失（q35）。
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6
Partial monosomy 7q syndrome due to distal interstitial deletion.由于远端间质缺失导致的7号染色体长臂部分单体综合征
Hum Genet. 1981;57(2):210-3. doi: 10.1007/BF00282026.
7
Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.由于一个inv ins(7;2)(q21.2;q3105q24.2)在四代人中分离，导致纯合的2q24.2----q3105单体和三体。
Hum Genet. 1984;68(1):77-86. doi: 10.1007/BF00293878.
8
Absence of a lateral rectus muscle associated with duplication of the chromosome segment 7q32----q34.外直肌缺失与染色体7q32----q34片段重复相关
J Med Genet. 1988 Feb;25(2):122-5. doi: 10.1136/jmg.25.2.122.
9
Genetic markers on chromosome 7.7号染色体上的遗传标记。
J Med Genet. 1988 May;25(5):294-306. doi: 10.1136/jmg.25.5.294.
10
A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.7q间质性缺失及β-葡萄糖醛酸酶基因排除定位的总结
J Med Genet. 1989 Oct;26(10):619-25. doi: 10.1136/jmg.26.10.619.
Ann Genet. 1972 Sep;15(3):159-65.
4
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