"Microcytogenetics" and Langer-Giedion syndrome.
作者信息
Frontali M, Ramenghi M, Trabace S, Dallapiccola B
出版信息
J Med Genet. 1982 Oct;19(5):390-1. doi: 10.1136/jmg.19.5.390-a.
Abstract
摘要
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"Microcytogenetics" and Langer-Giedion syndrome.“微细胞遗传学”与朗格-吉迪恩综合征。
J Med Genet. 1982 Oct;19(5):390-1. doi: 10.1136/jmg.19.5.390-a.
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Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?朗格-吉迪恩综合征（TRP II综合征）中8号染色体长臂的末端或中间缺失？
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Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13).两例患有相同8号染色体长臂间质性缺失的朗格-吉迪恩综合征：46，XY或XX，del(8)(q23.3q24.13) 。
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Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).朗格-吉迪恩综合征及伴有8号染色体长臂间质性缺失的其他先天性畸形 46，XY，del 8（q13-22）
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Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23.伴或不伴8q缺失的朗格-吉迪恩综合征。关键片段定位于8q23。
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Del (8) (q212q2200) de novo in a boy without Langer-Giedion syndrome.
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The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.
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引用本文的文献
1
Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?朗格-吉迪恩综合征（TRP II综合征）中8号染色体长臂的末端或中间缺失？
Hum Genet. 1983;64(2):163-6. doi: 10.1007/BF00327117.
2
Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46, XY or XX, del (8) (q23.3q24.13).两例患有相同8号染色体长臂间质性缺失的朗格-吉迪恩综合征：46，XY或XX，del(8)(q23.3q24.13) 。
Hum Genet. 1983;64(1):90-3. doi: 10.1007/BF00289486.
本文引用的文献
1
Langer-Giedion syndrome and deletion of the long arm of chromosome 8.
Hum Genet. 1981;58(2):231-2. doi: 10.1007/BF00278720.
2
Chromosome deletion and multiple cartilaginous exostoses.染色体缺失与多发性骨软骨瘤
Eur J Pediatr. 1980 Mar;133(2):163-6. doi: 10.1007/BF00441586.
3
Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).朗格-吉迪恩综合征及伴有8号染色体长臂间质性缺失的其他先天性畸形 46，XY，del 8（q13-22）
Clin Genet. 1980 Aug;18(2):142-6. doi: 10.1111/j.1399-0004.1980.tb01025.x.
4
Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213).因新发易位t(4;8)(q13;q213)导致的8号染色体长臂缺失。
Hum Genet. 1977 Sep 22;38(2):125-30. doi: 10.1007/BF00527393.
5
Small structural changes of chromosome 8. Two cases with evidence for deletion.8号染色体的微小结构变化。两例有缺失证据的病例。
Hum Genet. 1977 Aug 31;38(1):113-21. doi: 10.1007/BF00295814.
6
Presumptive long arm deletion of chromosome 8: a new syndrome?
Hum Genet. 1979 Sep 2;51(1):49-53. doi: 10.1007/BF00278291.
7
Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21).
Hum Genet. 1979 Apr 17;48(1):127-30. doi: 10.1007/BF00273286.
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