Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation.
作者信息
Kleczkowska A, Fryns J P, Buttiens M, de Bisschop F, Emmery L, Van den Berghe H
出版信息
Clin Genet. 1986 Dec;30(6):503-8. doi: 10.1111/j.1399-0004.1986.tb01918.x.
Abstract
In this paper we report two clinically recognizable chromosomal syndromes, both resulting from isochromosome 18 formation, i.e. trisomy 18q and tetrasomy 18p. The possible mechanisms of the isochromosome formation are discussed and the literature on subject is reviewed.
摘要
相似文献
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Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation.
Clin Genet. 1986 Dec;30(6):503-8. doi: 10.1111/j.1399-0004.1986.tb01918.x.
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Clinical outcome: a monosomy 18p is better than a tetrasomy 18p.临床结果：18号染色体短臂单体比18号染色体短臂四体更好。
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Trisomy 18 and 18p- features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report.18号染色体等臂染色体[46,XY,i(18q)]病例中的18三体和18p-特征：产前诊断与尸检报告
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Different conformation of two supernumerary 18p isochromosomes, one with a concomitant partial 18q trisomy.两条额外的18号染色体短臂等臂染色体的不同构象，其中一条伴有部分18号染色体长臂三体。
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引用本文的文献
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Tetrasomy 18p: case report and review of literature.18号染色体短臂四体综合征：病例报告及文献复习
Appl Clin Genet. 2018 Feb 8;11:9-14. doi: 10.2147/TACG.S153469. eCollection 2018.
2
Adults with Chromosome 18 Abnormalities.患有18号染色体异常的成年人。
J Genet Couns. 2015 Aug;24(4):663-74. doi: 10.1007/s10897-014-9793-5. Epub 2014 Nov 19.
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