Literature DB >> 6686091

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

M A De Arce.   

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.

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Year:  1983        PMID: 6686091

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  5 in total

1.  Sequential sampling in clinical cytogenetics: a quality control viewpoint.

Authors:  M A De Arce; S P McManus
Journal:  J Med Genet       Date:  1988-09       Impact factor: 6.318

2.  Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX.

Authors:  B Zoll; J Arnemann; M Krawczak; D N Cooper; G Pescia; W Wahli; P Steinbach; J Schmidtke
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Fragile X syndrome: clinical, cytogenetic, biochemical and molecular features.

Authors:  J C Mixon; V G Dev
Journal:  Indian J Pediatr       Date:  1986 Jul-Aug       Impact factor: 1.967

4.  Fragile X testing in a diagnostic cytogenetics laboratory.

Authors:  L E Voullaire; G C Webb; M Leversha
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

Review 5.  The fragile X syndrome: the patients and their chromosomes.

Authors:  M A De Arce; A Kearns
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

  5 in total

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