A 20-year-old male with partial trisomy 18q- as diagnosed by in situ hybridization.

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作者信息

Gravholt C H, Friedrich U, Nielsen J

出版信息

Hum Genet. 1992 Mar;88(6):711-2. doi: 10.1007/BF02265309.

DOI:10.1007/BF02265309

PMID:1551683

Abstract

摘要

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A 20-year-old male with partial trisomy 18q- as diagnosed by in situ hybridization.

Hum Genet. 1992 Mar;88(6):711-2. doi: 10.1007/BF02265309.

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本文引用的文献

Partial trisomy of chromosome 18 (pter leads to q11): a discussion on the identification of the critical segment.18号染色体部分三体（pter至q11）：关于关键区段识别的讨论

Ann Genet. 1981;24(4):248-50.

Trisomy 18 in a 13 year old girl.一名13岁女孩患18三体综合征。

J Med Genet. 1986 Jun;23(3):256-7. doi: 10.1136/jmg.23.3.256.

Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18.18三体评分：一种快速、可靠的18三体诊断测试。

J Pediatr. 1988 Jul;113(1 Pt 1):45-8. doi: 10.1016/s0022-3476(88)80526-2.

Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21.人类α卫星重复DNA的两个亚群在13号、18号和21号染色体的着丝粒周围区域表现出明显的优先定位。

Cytogenet Cell Genet. 1986;41(4):193-201. doi: 10.1159/000132229.

Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).家族性18;21易位rcp(18;21)(q12;q11)后18号染色体部分三体（pter----q12）

Hum Hered. 1990;40(2):81-4. doi: 10.1159/000153910.

A simplified protocol for fluorescence in situ hybridization with repetitive DNA probes and its use in clinical cytogenetics.

Clin Genet. 1991 Jul;40(1):47-56. doi: 10.1111/j.1399-0004.1991.tb03067.x.

Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18.

Am J Med Genet. 1990 Aug;36(4):506-10. doi: 10.1002/ajmg.1320360427.

Inversion 19 and isochromosome short arm 17 or 18.19号染色体倒位以及17号或18号染色体短臂等臂染色体

Hum Genet. 1977 Jul 26;37(3):347-50. doi: 10.1007/BF00393618.

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