Letter: Half chromatid mutations may explain incontinentia pigmenti in males.
作者信息
Lenz W
出版信息
Am J Hum Genet. 1975 Sep;27(5):690-1.
Abstract
摘要
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Letter: Half chromatid mutations may explain incontinentia pigmenti in males.信函：半染色单体突变可能解释男性色素失禁症的病因。
Am J Hum Genet. 1975 Sep;27(5):690-1.
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Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model.亚利桑那州印第安人中的色素失禁症，包括从母亲传给儿子的情况，与半染色单体突变模型不符。
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The half chromatid mutation model and bidirectional mutation in incontinentia pigmenti.色素失禁症中的半染色单体突变模型与双向突变
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Transmission of incontinentia pigmenti from mother to son is consistent with a half chromatid back-mutation (reversion) model.色素失禁症从母亲传给儿子符合半染色单体回复突变模型。
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Incontinentia pigmenti: a chromosomal breakage syndrome.色素失禁症：一种染色体断裂综合征。
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Chromosomal instability in incontinentia pigmenti: study of four families.
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Incontinentia pigmenti in identical twins with separate skin and neurological disorders.患有不同皮肤和神经系统疾病的同卵双胞胎中的色素失禁症。
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Incontinentia pigmenti in a male infant with Klinefelter syndrome.一名患有克兰费尔特综合征的男婴出现色素失禁症。
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[On the genetics of incontinentia pigmenti].[关于色素失禁症的遗传学]
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引用本文的文献
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A Case of a Surviving Male Infant with Incontinentia Pigmenti.一例存活的色素失禁症男婴病例。
Ann Dermatol. 2008 Sep;20(3):134-7. doi: 10.5021/ad.2008.20.3.134. Epub 2008 Sep 30.
2
Pigmentary nevi on face have unique patterns and implications: The concept of Blaschko's lines for pigmentary nevi.面部色素痣具有独特的形态及意义：色素痣的布拉斯科线概念。
Indian J Dermatol. 2012 Jan;57(1):30-4. doi: 10.4103/0019-5154.92673.
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Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.携带致死性突变的色素失禁症男性患者的存活情况可通过体细胞镶嵌现象或克兰费尔特综合征来解释。
Am J Hum Genet. 2001 Dec;69(6):1210-7. doi: 10.1086/324591. Epub 2001 Oct 22.
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Unstable mutation in incontinentia pigmenti?色素失禁症中的不稳定突变？
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Gonadal mosaicism for incontinentia pigmenti in a healthy male.一名健康男性中色素失禁症的性腺嵌合体。
J Med Genet. 1995 Nov;32(11):887-90. doi: 10.1136/jmg.32.11.887.
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Incontinentia pigmenti (Bloch-Sulzberger syndrome).色素失禁症（布洛赫-苏尔茨贝格综合征）。
J Med Genet. 1993 Jan;30(1):53-9. doi: 10.1136/jmg.30.1.53.
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Studies of a family with incontinentia pigmenti variably expressed in both sexes.对一个色素失禁症在两性中表现各异的家族进行的研究。
J Med Genet. 1982 Dec;19(6):447-51. doi: 10.1136/jmg.19.6.447.
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The influence of half-chromatid mutations on the ratio of new mutations in lethal X-linked recessive disorders.半染色单体突变对致死性X连锁隐性疾病中新突变比例的影响。
Am J Hum Genet. 1982 Jan;34(1):142-5.
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X-linked dominant inherited diseases with lethality in hemizygous males.半合子男性致死的X连锁显性遗传病。
Hum Genet. 1983;64(1):1-23. doi: 10.1007/BF00289472.
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Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation.一名患有平衡型X/3易位的女孩出现胼胝体发育不全、眼部和骨骼异常（X连锁显性Aicardi综合征）。
Hum Genet. 1982;61(4):364-8. doi: 10.1007/BF00276602.
本文引用的文献
1
Half chromatid mutations: transmission in humans?半染色单体突变：在人类中的传递？
Am J Hum Genet. 1975 Mar;27(2):218-23.
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