A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.
作者信息
Tommerup N, Tümer Z, Tønnesen T, Horn N
机构信息
John F Kennedy Institute, Glostrup, Denmark.
出版信息
J Med Genet. 1993 Apr;30(4):314-5. doi: 10.1136/jmg.30.4.314.
Abstract
摘要
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本文引用的文献
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X-autosome translocations: cytogenetic characteristics and their consequences.X染色体与常染色体易位：细胞遗传学特征及其后果
Hum Genet. 1982;61(4):295-309. doi: 10.1007/BF00276593.
2
Parental origin of de novo chromosome rearrangements.新发染色体重排的亲本来源。
Hum Genet. 1980;53(3):343-7. doi: 10.1007/BF00287054.
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[Specific fluorescence of R and G bands in human chromosomes].[人类染色体中R带和G带的特异性荧光]
C R Acad Hebd Seances Acad Sci D. 1973 Jan 15;276(3):339-42.
4
Menkes syndrome in a girl with X-autosome translocation.一名患有X-常染色体易位的女孩患门克斯综合征。
Am J Med Genet. 1987 Feb;26(2):503-10. doi: 10.1002/ajmg.1320260230.
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Constitutional karyotypes in retinoblastoma.
Ophthalmic Paediatr Genet. 1987 Mar;8(1):11-7. doi: 10.3109/13816818709028509.
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Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.对雄性存活缺失和重复进行分子分析，可对Xq近端的52个DNA探针进行排序。
Am J Hum Genet. 1988 Oct;43(4):452-61.
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Contiguous gene syndromes: a component of recognizable syndromes.相邻基因综合征：可识别综合征的一个组成部分。
J Pediatr. 1986 Aug;109(2):231-41. doi: 10.1016/s0022-3476(86)80377-8.
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High resolution chromosomes from first trimester trophoblast cultures.孕早期滋养层细胞培养的高分辨率染色体
Prenat Diagn. 1985 Jul-Aug;5(4):291-4. doi: 10.1002/pd.1970050408.
9
Clinical expression of Menkes syndrome in females.女性门克斯综合征的临床表现。
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The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27 beta methylation analysis.
Genet Res. 1990 Oct-Dec;56(2-3):135-40. doi: 10.1017/s0016672300035217.
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