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Ring chromosome 6: clinical and cytogenetic behaviour.

作者信息

Paz-y-Miño C, Benítez J, Ayuso C, Sánchez-Cascos A

机构信息

Laboratory de Genética, Facultad de Medicina, Universidad Central del Ecuador, Quito.

出版信息

Am J Med Genet. 1990 Apr;35(4):481-3. doi: 10.1002/ajmg.1320350407.

DOI:10.1002/ajmg.1320350407
PMID:2333874
Abstract

Several investigators have reported in vitro instability of ring chromosomes. We have evaluated the clinical and cytogenetic course over 8 years in a patient with ring chromosome 6 and found stability in this ring chromosome. The different cell lines remained constant, and the phenotype showed little variation. This syndrome seems to be related to the deletion in the ring rather than to its instability.

摘要

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Ring chromosome 6: clinical and cytogenetic behaviour.
Am J Med Genet. 1990 Apr;35(4):481-3. doi: 10.1002/ajmg.1320350407.
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引用本文的文献

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Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.患者环状染色体 4 :病例报告及文献复习的临床、细胞遗传学和分子学研究。
BMC Med Genomics. 2019 Nov 21;12(1):167. doi: 10.1186/s12920-019-0614-4.
2
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.15号环状染色体——细胞遗传学与定位阵列:一例病例报告及文献综述
J Med Case Rep. 2018 Nov 16;12(1):340. doi: 10.1186/s13256-018-1879-5.
3
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature.
一名智力残疾和畸形的儿童,病因是复杂的环状染色体 6:通过文献回顾鉴定分子机制。
Ital J Pediatr. 2018 Oct 11;44(1):114. doi: 10.1186/s13052-018-0571-0.
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Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.两名患有1q部分三体性和6p单体性的非亲缘关系儿童,表现出拉森综合征的表型。
Hum Genet. 1991 Sep;87(5):587-91. doi: 10.1007/BF00209018.