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一名患有先天性异常且4号染色体长臂长臂缺失的患者[46,XY,del(4)(q31)]。

A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)].

作者信息

Kempen C

出版信息

J Med Genet. 1975 Jun;12(2):204-7. doi: 10.1136/jmg.12.2.204.

DOI:10.1136/jmg.12.2.204
PMID:49428
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013266/
Abstract

This paper describes the clinical symptoms and cytogenetic findings in a patient previously described in a doctoral thesis (van Kempen, 1969). The patient is a boy with multiple congenital anomalies and a deletion of the long arm of chromosome 4. A recent Giemsa banding study showed absence of the terminal G-band, as was found in the patient described by Golbus et al (1973). The symptoms and other data on the three patients known to have a deletion of the long arm of chromosome 4 are presented to facillitate comparison of these cases. However, the number of cases so far on record is too small to warrant conclusions on the basis of this comparison.

摘要

本文描述了一名先前在一篇博士论文(范·肯彭,1969年)中有所描述的患者的临床症状和细胞遗传学发现。该患者是一名患有多种先天性异常且4号染色体长臂缺失的男孩。最近的吉姆萨显带研究显示,如戈尔布斯等人(1973年)所描述的患者一样,末端G带缺失。文中呈现了已知患有4号染色体长臂缺失的三名患者的症状及其他数据,以便于对这些病例进行比较。然而,目前有记录的病例数量太少,无法基于此比较得出结论。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d25d/1013266/d64be82f931d/jmedgene00315-0086-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d25d/1013266/40345b99476e/jmedgene00315-0084-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d25d/1013266/bd01d0e4e3be/jmedgene00315-0085-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d25d/1013266/d64be82f931d/jmedgene00315-0086-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d25d/1013266/40345b99476e/jmedgene00315-0084-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d25d/1013266/bd01d0e4e3be/jmedgene00315-0085-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d25d/1013266/d64be82f931d/jmedgene00315-0086-a.jpg

相似文献

1
A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)].一名患有先天性异常且4号染色体长臂长臂缺失的患者[46,XY,del(4)(q31)]。
J Med Genet. 1975 Jun;12(2):204-7. doi: 10.1136/jmg.12.2.204.
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Long arm deletion of chromosome no. 6 in a mentally retarded boy with multiple physical malformations.一名患有多种身体畸形的智障男孩6号染色体长臂缺失。
J Ment Defic Res. 1975 Jun;19(2):139-44.
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Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).一名具有46,XY,del(2)(q37)核型的轻度畸形低张婴儿,其2号染色体长臂存在末端缺失。
Am J Med Genet. 1989 Mar;32(3):350-2. doi: 10.1002/ajmg.1320320315.
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J Med Genet. 1980 Dec;17(6):486-7. doi: 10.1136/jmg.17.6.486.
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Deletion of the long arm of chromosome 4 [46,XX,del(4)(q31)] in a patient with congenital anomalies.一名先天性异常患者的4号染色体长臂缺失[46,XX,del(4)(q31)] 。
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Deletion of the short arm of chromosome No. 10.10号染色体短臂缺失。
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引用本文的文献

1
Toward the complete genomic map and molecular pathology of human chromosome 4.迈向人类4号染色体的完整基因组图谱和分子病理学
Hum Genet. 1994 Jul;94(1):1-18. doi: 10.1007/BF02272834.
2
Partial monosomy of long arm of chromosome 4 due to interstitial deletion.由于中间缺失导致的4号染色体长臂部分单体性。
Hum Genet. 1980;53(3):305-7. doi: 10.1007/BF00287046.
3
The partial 4q monosomy. Report of a 5-year-old boy with deletion 4q31.3 leads to 4qter.部分4号染色体短臂单体。一名5岁男孩的4q31.3至4q末端缺失的病例报告。

本文引用的文献

1
The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.蛋白水解酶在人类染色体结构重排图谱绘制中的应用。
Chromosoma. 1972;36(2):204-10. doi: 10.1007/BF00285214.
2
A large deletion of the long arm of chromosome No. 4 in a child with limb abnormalities.一名患有肢体异常的儿童4号染色体长臂发生大片段缺失。
Arch Dis Child. 1967 Aug;42(224):428-34. doi: 10.1136/adc.42.224.428.
3
Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies.与先天性异常相关的4号染色体长臂缺失(46,XX,4q-)
Eur J Pediatr. 1982 May;138(3):254-7. doi: 10.1007/BF00441212.
4
Partial deletion of the long arm of chromosome 4: a clinical syndrome.4号染色体长臂部分缺失:一种临床综合征
J Med Genet. 1982 Apr;19(2):155-7. doi: 10.1136/jmg.19.2.155.
5
A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.一名具有威廉姆斯综合征表型特征的婴儿,其4号染色体长臂存在末端缺失[46,XX,del(4)(q33)] 。
J Med Genet. 1986 Oct;23(5):474-7. doi: 10.1136/jmg.23.5.474.
6
Interstitial deletion of chromosome 4q diagnosed prenatally.产前诊断的4号染色体q臂间质性缺失。
J Med Genet. 1986 Aug;23(4):366-8. doi: 10.1136/jmg.23.4.366.
7
Translocation of chromosome 4 and 9 with ring formation of chromosome 4 short arm.4号和9号染色体易位,伴有4号染色体短臂环状形成。
J Med Genet. 1978 Aug;15(4):310-4. doi: 10.1136/jmg.15.4.310.
8
Pericentric inversion and partial monosomy 4q associated with congenital anomalies.与先天性异常相关的臂间倒位和4q部分单体性。
Hum Genet. 1977 Nov 10;39(2):239-42. doi: 10.1007/BF00287019.
J Med Genet. 1973 Mar;10(1):83-5. doi: 10.1136/jmg.10.1.83.