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两例7号染色体长臂存在不同缺失情况的病例。

Two cases with different deletions of the long arm of chromosome 7.

作者信息

Klep-de Pater J M, Bijlsma J B, Bleeker-Wagemakers E M, de France H F, de Vries-Ekkers C M

出版信息

J Med Genet. 1979 Apr;16(2):151-4. doi: 10.1136/jmg.16.2.151.

DOI:10.1136/jmg.16.2.151
PMID:458833
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012742/
Abstract

Two mentally and physically retarded girls, one with an interstitial deletion 7 (pter leads to q21::q32 leads to qter), and the other with an interstitial deletion 7 (pter leads to q11::q22 leads to qter), are described. Their clinical features are compared with those of 11 earlier reported cases with a deletion 7q. The Hageman factor, the locus of which is assigned to the distal part of 7q, was in both cases within normal limits. The data available do not justify the delineation of a specific clinical syndrome.

摘要

本文描述了两名智力和身体发育迟缓的女孩，其中一名患有7号染色体间质性缺失（从染色体短臂末端到q21::q32到染色体长臂末端），另一名患有7号染色体间质性缺失（从染色体短臂末端到q11::q22到染色体长臂末端）。将她们的临床特征与之前报道的11例7q缺失病例进行了比较。凝血因子Ⅻ的基因座定位于7q的远端，在这两个病例中其水平均在正常范围内。现有数据不足以明确界定一种特定的临床综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/1012742/264f92ad62fc/jmedgene00291-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/1012742/195d0847a4a0/jmedgene00291-0068-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/1012742/264f92ad62fc/jmedgene00291-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/1012742/195d0847a4a0/jmedgene00291-0068-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/1012742/264f92ad62fc/jmedgene00291-0069-a.jpg

相似文献

1
Two cases with different deletions of the long arm of chromosome 7.两例7号染色体长臂存在不同缺失情况的病例。
J Med Genet. 1979 Apr;16(2):151-4. doi: 10.1136/jmg.16.2.151.
2
Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21----q25) and del(1)(q41----q43).两例1号染色体长臂间质性缺失：del(1)(q21----q25) 和 del(1)(q41----q43) 。
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3
Two unrelated children with distal long arm deletion of chromosome 7: clinical features, cytogenetic and gene marker studies.
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本文引用的文献

1
A case of?6p- chromosomal aberration.
Am J Dis Child. 1968 Jan;115(1):93-9. doi: 10.1001/archpedi.1968.02100010095019.
2
Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus.7号染色体长臂缺失：基德（Jk）位点的初步定位
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Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 band.哈格曼因子（凝血因子 XII）基因座初步定位于 7 号染色体长臂，可能位于 7q35 带。
威廉姆斯-博伦综合征：52例患者的表型变异性及7号、11号和22号染色体缺失
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Full trisomy 7 and Potter syndrome.全三体7与波特综合征。
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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.
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Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32).由于7号染色体间质性缺失（7q22至7q32）导致的猫叫综合征和智力发育迟缓。
J Med Genet. 1982 Dec;19(6):473-6. doi: 10.1136/jmg.19.6.473.
7
A case of partial 5q trisomy associated with partial 7q monosomy.一例与部分7号染色体长臂单体性相关的部分5号染色体长臂三体性病例。
Br J Ophthalmol. 1986 Aug;70(8):630-3. doi: 10.1136/bjo.70.8.630.
8
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.
9
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.
10
Regional assignment of 41 human DNA fragments on chromosome 7 by means of a somatic cell hybrid panel.
Hum Genet. 1990 Jan;84(2):147-50. doi: 10.1007/BF00208929.
Humangenetik. 1974;24(3):197-200. doi: 10.1007/BF00283584.
4
A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.一种用于人类染色体R显带的简单方法，显示了R带与G带之间的pH依赖性联系。
Humangenetik. 1974 Jan 22;21(1):55-8. doi: 10.1007/BF00278565.
5
An improved banding technique exemplified in the karyotype analysis of two strains of rat.一种改进的显带技术，以两种大鼠品系的核型分析为例。
Chromosoma. 1973;41(3):259-63. doi: 10.1007/BF00344020.
6
Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies.一名患有多种异常的婴儿出现7号染色体长臂间质性缺失（7q-）。
Clin Genet. 1976 Nov;10(5):307-12. doi: 10.1111/j.1399-0004.1976.tb00053.x.
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7q deletion syndrome (7q32 leads to 7qter).7q缺失综合征（7q32至7q末端）。
Clin Genet. 1977 Oct;12(4):233-8.
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[Interstitial deletion of the long arm of chromosome 7 in a female child with leprechaunism].[一名患矮妖精貌综合征女童的7号染色体长臂间质性缺失]
Ann Genet. 1976 Dec;19(4):265-8.
9
Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.平衡易位t(8;9)(q12;q33)的父系携带者，伴有因7号染色体长臂新发末端缺失所致的表型异常。
Hum Genet. 1978 Feb 23;41(1):101-7. doi: 10.1007/BF00278876.
10
A partial long arm deletion of chromosome 7:46,XY,del(7)(q32).7号染色体长臂部分缺失：46，XY，del(7)(q32)
J Med Genet. 1977 Apr;14(2):144-7. doi: 10.1136/jmg.14.2.144.