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两例与智力发育迟缓相关的8号染色体短臂异常(8p+)病例。

Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation.

作者信息

Hongell K, Knuutila S, Westermarck T

出版信息

Clin Genet. 1978 Feb;13(2):237-40. doi: 10.1111/j.1399-0004.1978.tb04256.x.

DOI:10.1111/j.1399-0004.1978.tb04256.x
PMID:627113
Abstract

Morphologically similar chromosome anomalies, 8p+, were found in two inmates of an institution for the mentally retarded. Analysis of the G-and R-banding patterns showed that the first subject had a duplication of region p2 of chromosome 8; the second subject had an insertion of an unidentified chromosome segment at 8p11. Both subjects were severely mentally retarded. The physical malformations were more severe in the second subject than in the first, who had only minor signs. The dermatoglyphics are recorded.

摘要

在一所智障机构的两名 inmates 中发现了形态学上相似的染色体异常,即 8 号染色体短臂增加(8p+)。对 G 带和 R 带模式的分析表明,第一个受试者 8 号染色体 p2 区域存在重复;第二个受试者在 8p11 处插入了一个不明染色体片段。两名受试者均严重智障。第二名受试者的身体畸形比第一名更严重,第一名只有轻微症状。记录了皮纹情况。

相似文献

1
Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation.两例与智力发育迟缓相关的8号染色体短臂异常(8p+)病例。
Clin Genet. 1978 Feb;13(2):237-40. doi: 10.1111/j.1399-0004.1978.tb04256.x.
2
Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.一名患有多种先天性异常和智力障碍男孩的8号环状染色体。
J Med Genet. 1977 Dec;14(6):451-5. doi: 10.1136/jmg.14.6.451.
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New chromosomal malformation syndromes. I. Partial monosomy 8p. An attempt to establish a new chromosome deletion syndrome.新的染色体畸形综合征。I. 8号染色体短臂部分单体性。建立一种新的染色体缺失综合征的尝试。
Eur J Pediatr. 1977 Apr 26;125(1):45-57. doi: 10.1007/BF00470605.
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Screening for autosomal aberrations.常染色体畸变筛查。
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A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution.一种新的染色体缺失综合征。1例染色体核型为46,XY,8p-患者的报告。
Clin Genet. 1976 Mar;9(3):289-301. doi: 10.1111/j.1399-0004.1976.tb01577.x.
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An r(22)(p11 leads to q13) in a moderately mentally retarded girl.一名中度精神发育迟滞女孩存在r(22)(p11导致q13)异常。
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Familial C-G translocation in three relatives associated with severe mental retardation, short stature, unusual dermatoglyphics and other malformations.三名亲属中与严重智力发育迟缓、身材矮小、特殊皮纹及其他畸形相关的家族性C-G易位。
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A long unidentifiable extra chromosomal segment--a possible duplication of human 7q.一段无法识别的长染色体外片段——可能是人类7号染色体长臂的重复。
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Mental retardation and congenital malformations associated with a ring chromosome 9.与9号环状染色体相关的智力发育迟缓及先天性畸形
Hum Genet. 1976 Jun 29;32(3):289-93. doi: 10.1007/BF00295818.

引用本文的文献

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A case of partial trisomy of chromosome 8p associated with autism.一例与自闭症相关的8号染色体短臂部分三体病例。
J Autism Dev Disord. 2006 Jul;36(5):705-9. doi: 10.1007/s10803-006-0104-3.
2
Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.无畸形特征且仅有轻度智力障碍的家族性8p部分三体综合征。
J Med Genet. 1995 Oct;32(10):792-5. doi: 10.1136/jmg.32.10.792.
3
D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).D8S7在8号染色体短臂的反向重复(inv dup 8p)中持续缺失。
Hum Genet. 1993 Oct;92(4):391-6. doi: 10.1007/BF01247342.
4
Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p.8号染色体短臂三体综合征三例新病例的临床、酶学及细胞遗传学研究
Hum Genet. 1980;53(3):315-21. doi: 10.1007/BF00287049.
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Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale.因家族性8号与13号染色体不平衡易位导致的右房室连接缺如及双入口心室:一则警示故事
Pediatr Cardiol. 1984 Jan-Mar;5(1):55-9. doi: 10.1007/BF02306750.
6
Descriptive neuropathology of chromosomal disorders in man.人类染色体疾病的描述性神经病理学
Hum Genet. 1981;57(4):337-44. doi: 10.1007/BF00281680.
7
Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.8号染色体短臂三体:通过荧光原位杂交检测到的异常起源
Hum Genet. 1992 May;89(3):307-10. doi: 10.1007/BF00220547.