[Cytogenetic study of a case of Fanconi's syndrome with a familial pericentric inversion].
作者信息
Crippa L, Ferrier S
出版信息
J Genet Hum. 1975 Mar;23(1):7-16.
PMID:1165481
Abstract
The cytogenetic study of a case of Fanconi syndrome in a 16-year-old boy revealed besides chromosomal breakages, quadriradials and dicentric chromosomes, a pericentric inversion of chromosome No. 1. An uncle and an aunt on the paternal side presented likewise this pericentric inversion, however without breakages or clinical signs of Fanconi syndrome. Another paternal aunt showed short thumbs, but without chromosomal anomalies. The authors point to possible genetic repercussions of this familial pericentric inversion.
摘要
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[Cytogenetic study of a case of Fanconi's syndrome with a familial pericentric inversion].
J Genet Hum. 1975 Mar;23(1):7-16.
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引用本文的文献
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Familial inv(1) (p3500q21.3) associated with azoospermia.与无精子症相关的家族性inv(1)(p3500q21.3)
Hum Genet. 1984;66(2-3):165-7. doi: 10.1007/BF00286593.
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Pericentric inversions. Problems and significance for clinical genetics.臂间倒位。临床遗传学中的问题及意义。
Hum Genet. 1984;68(1):1-47. doi: 10.1007/BF00293869.
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Familial pericentric and paracentric inversions of chromosome 1.1号染色体的家族性臂间倒位和臂内倒位。
Hum Genet. 1988 Aug;79(4):315-20. doi: 10.1007/BF00282168.
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