普拉德-威利综合征中的15号染色体。
Chromosome 15 in Prader-Willi syndrome.
作者信息
Fear C N, Mutton D E, Berry A C, Heckmatt J Z, Dubowitz V
出版信息
Dev Med Child Neurol. 1985 Jun;27(3):305-11. doi: 10.1111/j.1469-8749.1985.tb04540.x.
Abstract
Nineteen children with the clinical features of Prader-Willi syndrome were karyotyped, using both routine Giemsa banding and high-resolution techniques. Chromosome abnormalities involving chromosome 15 were found in 10, entirely normal chromosomes in five and for the remaining four the findings were either equivocal or difficult to interpret. There was no clinical distinction between cases with and without the chromosome anomaly. Examination of three parents and a group of controls showed that the proximal end of the long arm of chromosome 15 may have a considerable degree of normal variation, which can make interpretation difficult.
摘要
对19名具有普拉德-威利综合征临床特征的儿童进行了核型分析，采用了常规吉姆萨染色法和高分辨率技术。10名儿童发现涉及15号染色体的染色体异常，5名儿童的染色体完全正常，其余4名儿童的结果要么模棱两可，要么难以解释。有染色体异常和无染色体异常的病例之间没有临床区别。对三名父母和一组对照的检查表明，15号染色体长臂的近端可能有相当程度的正常变异，这可能会使解释变得困难。
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本文引用的文献
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N Engl J Med. 1981 Feb 5;304(6):325-9. doi: 10.1056/NEJM198102053040604.
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Chromosome 15 in floppy infants.松软婴儿的15号染色体。
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Mid-prophase human chromosomes. The attainment of 2000 bands.中期人类染色体。达到2000条带纹。
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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。
Hum Genet. 1982;62(3):183-7. doi: 10.1007/BF00333515.
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Miller-Dieker syndrome: lissencephaly and monosomy 17p.米勒-迪克尔综合征：无脑回畸形与17号染色体短臂单体性
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High resolution chromosome banding in the Rubinstein-Taybi syndrome.鲁宾斯坦-泰比综合征中的高分辨率染色体显带
Clin Genet. 1983 Jan;23(1):35-7. doi: 10.1111/j.1399-0004.1983.tb00434.x.
9
Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.15q区域的一个区域的缺失、易位和重复可能与普拉德-威利（或类似）综合征相关。对七例经过不同确诊方式的病例进行分析。
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10
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Hum Genet. 1983;64(4):356-62. doi: 10.1007/BF00292367.
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