Diagnosis of Fragile X Syndrome

J Gordon Millichap

doi:10.15844/pedneurbriefs-5-12-7

Diagnosis of Fragile X Syndrome

Pediatric Neurology Briefs

Volume 5 (1991): Issue 12

By: J Gordon Millichap

Open Access

|Dec 1991

Abstract

Direct diagnosis by DNA analysis of the fragile X syndrome was studied in 511 persons from 63 families with the syndrome at the Institute National de la Sante et de la Recherce Medicale (INSERM), Unite 184, Faculte de Medecine, Strasbourg, France and other laboratories.

References

Rousseau F Mandel JL Heitz D Biancalana V Blumenfeld S Kretz C Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation N Engl J Med 1991 Dec 12 321 1673 1681 10.1056/NEJM199112123252401 1944467
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Sutherland GR Gedeon A Kornman L Donnelly A Byard RW Mulley JC Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence N Engl J Med 1991 Dec 12 325 24 1720 1722 10.1056/NEJM199112123252407 1944473
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Shapiro LR The fragile X syndrome. A peculiar pattern of inheritance N Engl J Med 1991 Dec 12 325 24 1736 1737 1944474
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-5-12-7 | Journal eISSN: 2166-6482

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Language: English

Page range: 94 - 95

Published on: Dec 1, 1991

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Fragile X Syndrome,

Mental Retardation,

Cytogenetic

© 1991 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 5 (1991): Issue 12