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Tables for the cytogenetic study of fragile X chromosomes for diagnostic purposes.

作者信息

De Arce M A

出版信息

Clin Genet. 1983 Nov;24(5):320-3.

PMID:6686091
Abstract

The frequency of expression of the fragile X chromosome varies from patient to patient. Many cases have been reported showing frequencies of less than 2%. With such low frequencies, the risk of erroneous diagnosis is great unless the appropriate number of cells is studied. We present here Tables based on the binomial distribution relating the frequency of expression of the fragile X in a patient with the sample size required to obtain a probability P of correct diagnosis according to different criteria.

摘要

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引用本文的文献

1
The fragile X syndrome: the patients and their chromosomes.脆性X综合征:患者及其染色体
J Med Genet. 1984 Apr;21(2):84-91. doi: 10.1136/jmg.21.2.84.
2
Fragile X syndrome: clinical, cytogenetic, biochemical and molecular features.脆性X综合征:临床、细胞遗传学、生物化学及分子特征
Indian J Pediatr. 1986 Jul-Aug;53(4):451-9. doi: 10.1007/BF02749526.
3
Sequential sampling in clinical cytogenetics: a quality control viewpoint.临床细胞遗传学中的序贯抽样:质量控制视角
J Med Genet. 1988 Sep;25(9):609-18. doi: 10.1136/jmg.25.9.609.
4
Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX.
Hum Genet. 1985;71(2):122-6. doi: 10.1007/BF00283366.
5
Fragile X testing in a diagnostic cytogenetics laboratory.诊断细胞遗传学实验室中的脆性X检测
J Med Genet. 1989 Jul;26(7):439-42. doi: 10.1136/jmg.26.7.439.