病例报告。两例同胞兄弟出现家族性4号与22号染色体易位并伴有4号染色体短臂部分三体。 - Suppr

Case report. Familial 4-22 translocation with partial trisomy for the short arm of chromosome 4 in two sibs.

作者信息

Sartori A, Tenconi R, Baccichetti C, Pujatti G

出版信息

Acta Paediatr Scand. 1974 Jul;63(4):631-5. doi: 10.1111/j.1651-2227.1974.tb04860.x.

DOI:10.1111/j.1651-2227.1974.tb04860.x

PMID:4850900

Abstract

摘要

相似文献

Case report. Familial 4-22 translocation with partial trisomy for the short arm of chromosome 4 in two sibs.

Acta Paediatr Scand. 1974 Jul;63(4):631-5. doi: 10.1111/j.1651-2227.1974.tb04860.x.

An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.

Hum Hered. 1973;23(6):568-85. doi: 10.1159/000152624.

Translocation, t(4qminus;13qplus), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation.

J Med Genet. 1974 Jun;11(2):201-5. doi: 10.1136/jmg.11.2.201.

A familial F/G translocation [t(p-; 22q+)] observed in three generations.

Clin Genet. 1975 Feb;7(2):120-7. doi: 10.1111/j.1399-0004.1975.tb00307.x.

Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother.

J Med Genet. 1974 Sep;11(3):299-303. doi: 10.1136/jmg.11.3.299.

[Autosomal chromosome aberrations].

Arch Genet (Zur). 1979;52(1-2):1-204.

Partial F trisomy associated with familial F-13 translocation detected and identified by parental chromosome studies.

J Pediatr. 1971 Apr;78(4):664-72. doi: 10.1016/s0022-3476(71)80471-7.

An extra small metacentric chromosome in association with multiple congenital abnormalities.

J Med Genet. 1971 Sep;8(3):381-3. doi: 10.1136/jmg.8.3.381.

Familial balanced insertion (5;10) and monosomy and trisomy (10) (q24.2----q25.3).

Clin Genet. 1984 Jan;25(1):52-8. doi: 10.1111/j.1399-0004.1984.tb00462.x.

Trisomy of the short arm of chromosome 8: association with translocation between chromosomes 8 and 22 46,XY,22-,t(8p22q) plus.

Clin Genet. 1973 Jun;4(6):507-16. doi: 10.1111/j.1399-0004.1973.tb01940.x.

引用本文的文献

Clinical manifestations of trisomy 4p syndrome.

Eur J Pediatr. 1995 Jun;154(6):425-31. doi: 10.1007/BF02029349.

The radiological pattern associated with the trisomy of the short arm of chromosome No 4.

Pediatr Radiol. 1975 Jan 24;3(1):34-40. doi: 10.1007/BF00973364.

Trisomy 4p14 leads to 4pter with translocation t(4;15)(p14;p12) in the father.

Humangenetik. 1975 Oct 7;29(4):329-35. doi: 10.1007/BF00394195.

Hand dermatoglyphics in trisomy 4p.

Hum Genet. 1976 Dec 15;34(3):271-6. doi: 10.1007/BF00295290.

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

Case report. Familial 4-22 translocation with partial trisomy for the short arm of chromosome 4 in two sibs.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献