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Ring chromosome 7: report of the fifth case.

作者信息

Caramia G M, Baroncini A, Osimani P, Forabosco A

机构信息

Divisione Pediatria-Neonatologia, Ospedale dei Bambini G. Salesi, Ancona, Italy.

出版信息

Eur J Pediatr. 1990 Apr;149(7):475-6. doi: 10.1007/BF01959398.

DOI:10.1007/BF01959398
PMID:2189730
Abstract

A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findings in these subjects were short stature, microcephaly and dermatological abnormalities.

摘要

相似文献

1
Ring chromosome 7: report of the fifth case.
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引用本文的文献

1
Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7.一例新发嵌合型环状染色体7的分子细胞遗传学分析及临床表现
Mol Cytogenet. 2011 Feb 8;4(1):5. doi: 10.1186/1755-8166-4-5.
2
Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?一名伊藤色素减退症患者15q11q13的嵌合性缺失：P基因是否起作用？
Hum Genet. 1995 Oct;96(4):485-9. doi: 10.1007/BF00191813.

本文引用的文献

1
A fourth case of ring chromosome 7.第4例环状染色体7。
Clin Genet. 1982 Aug;22(2):90-8. doi: 10.1111/j.1399-0004.1982.tb01419.x.
2
The cytogenetic and clinical implications of a ring chromosome 2.环状2号染色体的细胞遗传学及临床意义
Ann Genet. 1981;24(4):231-5.
3
Cytogenetics of ring chromosome 7.7号环状染色体的细胞遗传学
Clin Genet. 1984 Jan;25(1):84-5. doi: 10.1111/j.1399-0004.1984.tb00468.x.
4
Ring chromosome 7 with variable phenotypic expression.具有可变表型表达的环状染色体7
Cytogenet Cell Genet. 1973;12(1):40-8. doi: 10.1159/000130436.
5
Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome.“环形综合征”存在吗？对207例具有环状常染色体患者的病例报告分析。
Hum Genet. 1987 Feb;75(2):174-9. doi: 10.1007/BF00591082.
6
Chromosome 7 short arm deletion, 7p21----pter.染色体7短臂缺失，7p21----末端。
Hum Genet. 1986 Nov;74(3):323-5. doi: 10.1007/BF00282559.
7
A ring C7 chromosome in a mentally and physically retarded male with various somatic abnormalities.
Jinrui Idengaku Zasshi. 1977 Jun;22(1):33-41. doi: 10.1007/BF01908283.