An inherited pericentric chromosomal inversion (46, inv3 (p-q+)) associated with skeletal anomalies.
作者信息
Cohen M M, Davidson R G
出版信息
J Pediatr. 1971 Sep;79(3):456-62. doi: 10.1016/s0022-3476(71)80156-7.
PMID:5567968
Abstract
摘要
相似文献
1
An inherited pericentric chromosomal inversion (46, inv3 (p-q+)) associated with skeletal anomalies.
J Pediatr. 1971 Sep;79(3):456-62. doi: 10.1016/s0022-3476(71)80156-7.
2
Osseous malformations associated with chromosome abnormalities.与染色体异常相关的骨畸形
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Pericentric inversion in a group D chromosome (13-15) associated with amenorrhea and gonadal dysgenesis.与闭经和性腺发育不全相关的D组染色体（13 - 15）臂间倒位。
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Microdensitometric identification of the pericentric inversion of chromosome No.2 and of duplication of the short arm of chromosome No.7 in a reexamined case.在一例复查病例中，通过微密度测定法鉴定2号染色体的臂间倒位和7号染色体短臂的重复。
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A large deletion of chromosome no. 1 (46,XY,1?--).
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6
Inherited pericentric inversion of chromosome number two: a linkage study.2号染色体遗传性臂间倒位：一项连锁研究。
Ann Hum Genet. 1969 Jul;33(1):53-9. doi: 10.1111/j.1469-1809.1969.tb01629.x.
7
Ring chromosome 18 in a patient with multiple anomalies.一名患有多种异常的患者的18号环状染色体。
J Med Genet. 1967 Jun;4(2):117-23. doi: 10.1136/jmg.4.2.117.
8
Inverted insertion of chromosome 7q and ectrodactyly.7号染色体长臂倒位插入与缺指（趾）畸形
Am J Med Genet. 1993 Jun 15;46(5):492-3. doi: 10.1002/ajmg.1320460505.
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MN blood-group locus: data concerning the possible chromosomal location.MN血型位点：关于可能的染色体定位的数据。
Science. 1968 Nov 29;162(3857):1014-5. doi: 10.1126/science.162.3857.1014.
10
A family showing transmission of a translocation t(3porq-;Cq+).一个显示3号染色体短臂与未知染色体长臂之间易位t(3porq-;Cq+)传递的家系。 （注：原文中“porq”和“Cq”表述不太准确规范，推测可能是有笔误，但按照要求准确翻译了原文内容）
J Med Genet. 1971 Dec;8(4):509-12. doi: 10.1136/jmg.8.4.509.
引用本文的文献
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Familial pericentric inversion (3)(p12q24).家族性臂间倒位（3）（p12q24）
Hum Genet. 1992 Jun;89(4):433-6. doi: 10.1007/BF00194317.
2
A fetus with recombinant of chromosome 8 inherited from her carrier father.一名从其携带染色体8重组的父亲那里遗传了该染色体的胎儿。
Hum Genet. 1978 Feb 16;40(3):241-8. doi: 10.1007/BF00272184.
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Inversion homozygosity of chromosome no. 9 in a higly inbred kindred.一个高度近亲繁殖家族中9号染色体的倒位纯合性。
Am J Hum Genet. 1976 May;28(3):203-7.
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