A familial translocation t(6q+;8q-) identified by fluorescence microscopy.
作者信息
Niebuhr E
出版信息
Humangenetik. 1973 Apr 16;18(2):189-92. doi: 10.1007/BF00291490.
PMID:4737101
Abstract
摘要
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A familial translocation t(6q+;8q-) identified by fluorescence microscopy.通过荧光显微镜鉴定出的家族性易位t(6q+;8q-)
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Five generations of t(4;8)(q35;q13) leading to a case of partial 8q trisomy with consideration of potential pregnancy outcomes from translocation carriers.五代t(4;8)(q35;q13)导致一例部分8号染色体三体病例，并考虑了易位携带者的潜在妊娠结局。
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Centric fission of chromosome no. 7 in three generations.三代人中7号染色体的着丝粒分裂。
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Brother and sister with trisomy 10p: a new syndrome.患有10号染色体短臂三体综合征的兄妹：一种新综合征。
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New chromosomal malformation syndromes. I. Partial monosomy 8p. An attempt to establish a new chromosome deletion syndrome.新的染色体畸形综合征。I. 8号染色体短臂部分单体性。建立一种新的染色体缺失综合征的尝试。
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Trisomy C in an infant with polycystic kidneys and other malformations.一名患有多囊肾及其他畸形的婴儿的C三体综合征。
J Pediatr. 1970 Apr;76(4):598-603. doi: 10.1016/s0022-3476(70)80411-5.
2
[Study by fluorescence of a trisomy C mosaic, probably 8: 46,XY-47,XY,?8+].[对可能为8:46,XY-47,XY,?8+的嵌合三体C进行荧光研究]
Ann Genet. 1971 Mar;14(1):69-72.
3
4
[A further case of presumed 6-12 trisomy].[一例疑似6-12三体综合征的病例]
Ann Genet. 1966 Sep;9(3):109-12.
5
[Translocation 8-22 with no length change and partial trisomy for 8q. Detection by heat denaturation].[8号与22号染色体易位，长度无改变且8q部分三体。通过热变性检测]
Exp Cell Res. 1972 Sep;74(1):293-5. doi: 10.1016/0014-4827(72)90510-1.
6
Two human X-autosome translocations identified by autoradiography and fluorescence.通过放射自显影和荧光鉴定出的两个人类X染色体与常染色体的易位。
Am J Hum Genet. 1972 Sep;24(5):583-97.
7
C8 trisomy mosaicism syndrome.8号染色体三体嵌合综合征
Helv Paediatr Acta. 1972 Jul;27(3):281-98.
8
Prenatal diagnosis of chromosome abnormalities.染色体异常的产前诊断
Acta Paediatr Scand. 1972 Jul;61(4):397-404. doi: 10.1111/j.1651-2227.1972.tb15854.x.
9
The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability.人类中期染色体的24种荧光模式——鉴别特征与变异性
Hereditas. 1972;67(1):89-102. doi: 10.1111/j.1601-5223.1971.tb02363.x.
10
Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques.通过荧光和吉姆萨显带技术鉴定出4例8三体患者。
J Med Genet. 1972 Mar;9(1):1-7. doi: 10.1136/jmg.9.1.1.
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