Trisomy 4p and ocular defects.
作者信息
Lurie I W, Samochvalov V A
机构信息
Department of Pediatrics, School of Medicine, University of Maryland at Baltimore.
出版信息
Br J Ophthalmol. 1994 May;78(5):415-7. doi: 10.1136/bjo.78.5.415.
Abstract
摘要
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1
Trisomy 4p and ocular defects.4号染色体短臂三体与眼部缺陷。
Br J Ophthalmol. 1994 May;78(5):415-7. doi: 10.1136/bjo.78.5.415.
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[Colobomatous microphthalmos with cyst and 4 P- syndrome].
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Trisomy 4q with morning glory disc anomaly.
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引用本文的文献
1
Clinical manifestations of trisomy 4p syndrome.4p三体综合征的临床表现。
Eur J Pediatr. 1995 Jun;154(6):425-31. doi: 10.1007/BF02029349.
本文引用的文献
1
Two cases of coloboma associated with unbalanced translocations.两例与不平衡易位相关的脉络膜缺损。
Br J Ophthalmol. 1993 Feb;77(2):122-3. doi: 10.1136/bjo.77.2.122.
2
Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred.4号染色体的臂间倒位在一个家族中产生了dup(4p)和dup(4q)重组体。
Am J Med Genet. 1993 Jan 1;45(1):5-8. doi: 10.1002/ajmg.1320450104.
3
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics.
Am J Med Genet. 1993 Apr 1;46(1):72-6. doi: 10.1002/ajmg.1320460112.
4
A further report on a kindred with cases of 4p trisomy and monosomy.
Hum Hered. 1980;30(1):58-61. doi: 10.1159/000153091.
5
A complex four-break rearrangement between chromosomes 4 and 13 resulting in a recombinant chromosome 4.4号和13号染色体之间发生复杂的四重断裂重排，产生一条重组4号染色体。
Cytogenet Cell Genet. 1981;30(1):3-10. doi: 10.1159/000131581.
6
Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)].对13例患有沃夫-贺许宏氏症候群[4号染色体短臂缺失（del(4p)）]患者的基因与临床研究。
Hum Genet. 1981;59(4):297-307. doi: 10.1007/BF00295461.
7
[Multiple abnormalities as a result of partial trisomy 4p and partial monosomy 18q by meiotic recombination].
Monatsschr Kinderheilkd. 1983 Mar;131(3):169-72.
8
The critical monosomic segment involved in 4p- syndrome: a high-resolution banding study on five inherited cases.4p-综合征相关关键单体片段：对5例遗传病例的高分辨率显带研究
Jinrui Idengaku Zasshi. 1984 Dec;29(4):403-13. doi: 10.1007/BF01876498.
9
[Clinical importance of chromosomal translocations (author's transl)].
Wien Klin Wochenschr. 1980;92(11):395-405.
10
Inherited pericentric inversion of chromosome no. 4.4号染色体遗传性臂间倒位。
Am J Hum Genet. 1970 Nov;22(6):679-90.
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