A case of Prader-Willi syndrome in a girl with a small extra chromosome.

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作者信息

Ridler M A, Garrod O, Berg J M

出版信息

Acta Paediatr Scand. 1971 Mar;60(2):222-6. doi: 10.1111/j.1651-2227.1971.tb06646.x.

DOI:10.1111/j.1651-2227.1971.tb06646.x

PMID:5548129

Abstract

摘要

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A case of Prader-Willi syndrome in a girl with a small extra chromosome.

Acta Paediatr Scand. 1971 Mar;60(2):222-6. doi: 10.1111/j.1651-2227.1971.tb06646.x.

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引用本文的文献

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.单亲二体性解释了额外存在一条小的inv dup(15)染色体的患者中Angelman综合征或普拉德-威利综合征的发生情况。

J Med Genet. 1993 Sep;30(9):756-60. doi: 10.1136/jmg.30.9.756.

Inv dup(15) supernumerary marker chromosomes.inv dup(15) 额外标记染色体。

J Med Genet. 1994 Aug;31(8):585-94. doi: 10.1136/jmg.31.8.585.

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.15号染色体异常与普拉德-威利综合征：40例随访报告

Am J Hum Genet. 1982 Mar;34(2):278-85.

Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases.普拉德-威利综合征与15号染色体。20例临床讨论

Hum Genet. 1983;64(4):356-62. doi: 10.1007/BF00292367.

Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.15号染色体异常与普拉德-威利综合征：细胞遗传学分析

Hum Genet. 1984;66(4):313-34. doi: 10.1007/BF00287636.

An extra idic(15p)(q11) chromosome in Prader-Willi syndrome.普拉德-威利综合征中额外的15号染色体短臂等臂染色体（15p)(q11) 。

Hum Genet. 1980;55(3):409-11. doi: 10.1007/BF00290227.

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.

The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.伴有15/15易位的普拉德-威利综合征。病例报告及文献复习

J Med Genet. 1976 Apr;13(2):152-7. doi: 10.1136/jmg.13.2.152.

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