家族性19号染色体臂间倒位
Familial pericentric inversion 19.
作者信息
Jordan D K, Taysi K, Blackwell N L
出版信息
J Med Genet. 1980 Jun;17(3):222-5. doi: 10.1136/jmg.17.3.222.
Abstract
Several members in two families were found to have a pericentric inversion of chromosome 19. A review of four previous cases, together with those reported here, suggests that inversion of chromosome 19 is not related to the phenotypic features of the probands. Furthermore, there has been no report of an affected subject resulting from a duplication deficiency product of inverted chromosome 19 among the offspring of inversion heterozygotes. The suggested association of aneuploidy in the inversion carriers is also discussed.
摘要
在两个家族中发现有几名成员存在19号染色体的臂间倒位。对之前4例病例以及本文所报告病例的回顾表明，19号染色体倒位与先证者的表型特征无关。此外，在倒位杂合子的后代中，尚无因19号倒位染色体的重复缺失产物导致受累个体的报告。文中还讨论了倒位携带者中出现非整倍体的可能关联。
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本文引用的文献
1
[Turner's syndrome and a probable pericentric inversion of chromosome 2(45, X, 2(p+q-))].
Ann Genet. 1968 Sep;11(3):181-3.
2
[5 cases of structural anomalies of the X chromosome and a case of 45,X,2(p+q-)].
Lille Med. 1971 Aug-Sep;16(7):957-68.
3
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J Med Genet. 1974 Mar;11(1):50-64. doi: 10.1136/jmg.11.1.50.
4
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.对14,069名新生儿的细胞遗传学调查。I. 染色体异常的发生率。
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5
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6
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Humangenetik. 1975 Jun 19;28(2):121-8. doi: 10.1007/BF00735744.
7
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