猫眼综合征多余染色体的进一步描绘。 - Suppr

Suppr

超能文献

Further delineation of the supernumerary chromosome in the Cat-Eye syndrome.

作者信息

Toomey K E, Mohandas T, Leisti J, Szalay G, Kaback M M

出版信息

Clin Genet. 1977 Nov;12(5):275-84. doi: 10.1111/j.1399-0004.1977.tb00941.x.

DOI:10.1111/j.1399-0004.1977.tb00941.x

PMID:412629

Abstract

摘要

相似文献

Further delineation of the supernumerary chromosome in the Cat-Eye syndrome.

Clin Genet. 1977 Nov;12(5):275-84. doi: 10.1111/j.1399-0004.1977.tb00941.x.

Inverted duplication of 22pter----q11.21 in cat-eye syndrome.

Am J Med Genet. 1986 Jul;24(3):543-5. doi: 10.1002/ajmg.1320240320.

Cat-eye syndrome: evaluation of the extra chromosome with banding techniques. Case report.

J Genet Hum. 1974 Jun;22(2):101-7.

[Coloboma and anal atresia: phenotype of a chromosome aberration?].

Klin Monbl Augenheilkd. 1971 Sep;159(3):357-67.

The aetiology of the cat eye syndrome reconsidered.

J Med Genet. 1981 Apr;18(2):108-18. doi: 10.1136/jmg.18.2.108.

Silver staining of the supernumerary chromosome in the cat-eye syndrome.

Ann Genet. 1980;23(2):114-6.

[Extra mini-chromosome with symptoms of cat-eye syndrome].

Orv Hetil. 1985 Apr 28;126(17):1037-9.

Case report. The cat-eye syndrome with unusual skeletal malformations.

Acta Paediatr Scand. 1974 Jul;63(4):623-6. doi: 10.1111/j.1651-2227.1974.tb04858.x.

Cat-eye syndrome with unusual marker chromosome probably not chromosome 22.

Am J Med Genet. 1984 May;18(1):19-24. doi: 10.1002/ajmg.1320180105.

Re-evaluation of the supernumerary chromosome in an individual with cat eye syndrome.

Am J Med Genet. 1987 May;27(1):225-7. doi: 10.1002/ajmg.1320270126.

引用本文的文献

Coloboma and anorectal malformations: a rare association with important clinical implications.

Pediatr Surg Int. 2013 Sep;29(9):905-12. doi: 10.1007/s00383-013-3356-y.

A 13-year-old girl with karyotype 47, XX, +i (22) (qll).

J Med Genet. 1981 Feb;18(1):61-4. doi: 10.1136/jmg.18.1.61.

The aetiology of the cat eye syndrome reconsidered.

J Med Genet. 1981 Apr;18(2):108-18. doi: 10.1136/jmg.18.2.108.

Possible origin of a small bisatellited additional chromosome.

Hum Genet. 1980;54(3):319-22. doi: 10.1007/BF00291576.

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Hum Genet. 1981;57(2):148-58. doi: 10.1007/BF00282012.

Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Hum Genet. 1984;66(4):313-34. doi: 10.1007/BF00287636.

The genetic significance of accessory bisatellited marker chromosomes.

Hum Genet. 1983;65(2):155-64. doi: 10.1007/BF00286654.

Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal age.

Am J Hum Genet. 1987 Feb;40(2):83-101.

Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature. Contribution to further delineation of a new syndrome.

Hum Genet. 1978 Oct 19;44(1):59-69. doi: 10.1007/BF00283575.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验