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与九号染色体异常相关的放射学异常。

Radiological abnormalities associated with anomalies of the ninth chromosome.

作者信息

Pilling D W, Levick R K

出版信息

Pediatr Radiol. 1978 Feb 28;6(4):215-21. doi: 10.1007/BF00975540.

DOI:10.1007/BF00975540
PMID:643350
Abstract

The clinical and radiological features of Trisomy of the short arm of the ninth chromosome and of the Nail Patella Syndrome, both of which conditions are related to abnormalities of the ninth chromosome, are compared. Dislocation of the head of radius is seen in both conditions, as is a diminished patello condylar ratio. Several of the features described as being sporadic anomalies in the Nail Patella Syndrome are also seen in some patients with Trisomy of the Ninth Chromosome. The Trisomy 9 group also have several anomalies which are shared with Trisomy 21, Trisomy 17/18, Trisomy 13/15 and Trisomy 4, suggesting that some of these changes are a non-specific result of chromosome abnormality rather than being specific to the Trisomy 9.

摘要

对9号染色体短臂三体综合征和指甲髌骨综合征的临床及放射学特征进行了比较,这两种病症均与9号染色体异常有关。两种病症均可见桡骨头脱位以及髌股比例减小。在指甲髌骨综合征中被描述为散发性异常的一些特征,在部分9号染色体三体患者中也可见到。9号染色体三体组还具有一些与21号染色体三体、17/18号染色体三体、13/15号染色体三体和4号染色体三体共有的异常,这表明其中一些变化是染色体异常的非特异性结果,而非9号染色体三体所特有。

相似文献

1
Radiological abnormalities associated with anomalies of the ninth chromosome.与九号染色体异常相关的放射学异常。
Pediatr Radiol. 1978 Feb 28;6(4):215-21. doi: 10.1007/BF00975540.
2
[Nail-patella syndrome].
Hautarzt. 1996 Nov;47(11):860-2. doi: 10.1007/s001050050522.
3
[Skeletal anomalies in nail-patella syndrome. Case report and overview].
Hautarzt. 1997 Aug;48(8):581-5. doi: 10.1007/s001050050631.
4
The radiological pattern associated with the trisomy of the short arm of chromosome No 4.与4号染色体短臂三体相关的放射学表现。
Pediatr Radiol. 1975 Jan 24;3(1):34-40. doi: 10.1007/BF00973364.
5
Trisomy for the short arm of chromosome No. 10.10号染色体短臂三体性
Clin Genet. 1974;6(5):408-15. doi: 10.1111/j.1399-0004.1974.tb02264.x.
6
Partial trisomy 10q in three unrelated patients.三名非亲缘关系患者的10q部分三体综合征
Ann Genet. 1983;26(2):79-85.
7
Autosomal linkage in man: the nail-patella syndrome.人类常染色体连锁:指甲-髌骨综合征
Clin Orthop Relat Res. 1964 Mar-Apr;33:129-37.
8
Transmission of a translocation t(Cp+; Dq-) through three generations; including an example of probable trisomy for the short arm of the C group chromosome No. 9.一种易位t(Cp+; Dq-)在三代人中的传递;包括一个9号C组染色体短臂可能三体的例子。
Ann Genet. 1969 Mar;12(1):15-27.
9
Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.12号染色体长臂部分三体:一种临床可识别的综合征。与12号染色体长臂易位相关的遗传风险。
J Med Genet. 1983 Apr;20(2):86-9. doi: 10.1136/jmg.20.2.86.
10
Familial partial trisomy of the long arm of chromosome 10 (q24-26).10号染色体长臂(q24 - 26)的家族性部分三体性
Pediatrics. 1975 Nov;56(5):756-61.

本文引用的文献

1
Nail-patella syndrome: clinical and linkage data on family G.指甲-髌骨综合征:G家族的临床及连锁数据
Ann Hum Genet. 1956 May;20(4):348-60. doi: 10.1111/j.1469-1809.1955.tb01290.x.
2
Trisomy 13-15.13 - 15三体综合征
Radiology. 1969 Jan;92(1):44-9. doi: 10.1148/92.1.44.
3
The radiological pattern associated with the trisomy of the short arm of chromosome No 4.与4号染色体短臂三体相关的放射学表现。
Pediatr Radiol. 1975 Jan 24;3(1):34-40. doi: 10.1007/BF00973364.
4
Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9.
Clin Genet. 1975 Apr;7(4):261-73. doi: 10.1111/j.1399-0004.1975.tb00328.x.