Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?
作者信息
Butler M G, Hedges L K, Rogan P K, Seip J R, Cassidy S B, Moeschler J B
出版信息
Am J Med Genet. 1997 Oct 3;72(1):111-4.
Abstract
摘要
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Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.全染色体非整倍体且伴有疑似或确诊的第二种诊断的患者的表型改变。
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本文引用的文献
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Report and abstracts of the Second International Workshop on Human Chromosome 15 Mapping. England, February 18-20, 1994.第二届人类15号染色体图谱绘制国际研讨会报告及摘要。英国，1994年2月18日至20日。
Cytogenet Cell Genet. 1994;67(1):1-22. doi: 10.1159/000133717.
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Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis.
Am J Hum Genet. 1994 Mar;54(3):473-81.
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Clinical correlates of chromosome 15 deletions and maternal disomy in Prader-Willi syndrome.普拉德-威利综合征中15号染色体缺失和母源二体的临床关联
Am J Dis Child. 1993 Nov;147(11):1217-23. doi: 10.1001/archpedi.1993.02160350091014.
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The Prader-Willi syndrome: a study of 40 patients and a review of the literature.普拉德-威利综合征：40例患者的研究及文献综述
Medicine (Baltimore). 1983 Mar;62(2):59-80.
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The Prader-Labhart-Willi syndrome: review of the literature and report of nine cases.普拉德-拉巴哈特-威利综合征：文献综述及9例报告
Acta Paediatr Scand. 1968:Suppl 186:1+. doi: 10.1111/j.1651-2227.1968.tb06038.x.
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Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.39例普拉德-威利综合征患者的临床与细胞遗传学调查
Am J Med Genet. 1986 Mar;23(3):793-809. doi: 10.1002/ajmg.1320230307.
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[Prader-Labhart-Willi syndrome with 47,XXX karyotype. Etio-pathogenetic considerations].[核型为47,XXX的普拉德-拉巴尔特-威利综合征。病因病理思考]
Minerva Pediatr. 1986 Apr 30;38(8):271-4.
8
Prader-Willi syndrome: current understanding of cause and diagnosis.普拉德-威利综合征：对病因和诊断的当前认识
Am J Med Genet. 1990 Mar;35(3):319-32. doi: 10.1002/ajmg.1320350306.
9
Molecular and cytogenetic studies of the Prader-Willi syndrome.普拉德-威利综合征的分子与细胞遗传学研究。
J Med Genet. 1991 Oct;28(10):649-54. doi: 10.1136/jmg.28.10.649.
10
The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.普拉德-威利综合征中单亲二体的频率。对分子诊断的意义。
N Engl J Med. 1992 Jun 11;326(24):1599-607. doi: 10.1056/NEJM199206113262404.
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