Ring chromosome 1 associated with radial ray defect.
作者信息
Gardner R J, Grindley R M, Chewings W E, Clarkson J E
出版信息
J Med Genet. 1984 Oct;21(5):400. doi: 10.1136/jmg.21.5.400.
Abstract
摘要
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1
Ring chromosome 1 associated with radial ray defect.与桡骨射线缺陷相关的环状1号染色体。
J Med Genet. 1984 Oct;21(5):400. doi: 10.1136/jmg.21.5.400.
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Congenital ocular and other systemic abnormalities associated with ring-11 chromosome.与11号环状染色体相关的先天性眼部及其他全身异常。
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[Diagnostic and genetic aspects of congenital radial ray deficiency].[先天性桡骨射线发育不全的诊断与遗传学方面]
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D1 ring chromosome in newborn with peculiar face, polydactyly, imperforate anus, arrhinencephaly, and other malformations.患有特殊面容、多指（趾）畸形、肛门闭锁、无脑回及其他畸形的新生儿中的D1环状染色体。
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Multiple congenital anomalies associated with a ring-D chromosome.与环形D染色体相关的多种先天性异常。
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6
Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.一条18号环状染色体从一名具有46,XX/47,XX, + r(18)嵌合体的母亲遗传给她的女儿，导致女儿的核型为46,XX,r(18)。
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[Ring chromosome 9].
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Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation.
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Ring chromosome 15 in a patient with features of Fryns' syndrome.一名具有弗林斯综合征特征患者的15号环状染色体。
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MULTIPLE CONGENITAL ANOMALIES ASSOCIATED WITH A PARTIALLY RING-SHAPED CHROMOSOME PROBABLY DERIVED FROM CHROMOSOME NO. 18 IN MAN.与一条可能源自人类第18号染色体的部分环形染色体相关的多种先天性畸形。
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引用本文的文献
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A patient with constitutional ring 1 chromosome characterized by SNP array CGH.一名具有由单核苷酸多态性阵列比较基因组杂交所表征的染色体1环状结构的患者。
Clin Case Rep. 2016 Mar 21;4(4):442-8. doi: 10.1002/ccr3.522. eCollection 2016 Apr.
本文引用的文献
1
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.
2
Apparently non-deleted ring-1 chromosome and extreme growth failure in a mentally retarded girl.一名智力发育迟缓女孩出现明显未缺失的1号环状染色体及极度生长发育迟缓。
Clin Genet. 1978 Jul;14(1):8-15. doi: 10.1111/j.1399-0004.1978.tb02054.x.
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