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X‐Linked cataract

X‐Linked cataract X-Linked cataract BY M. FRACCARO,* G. MORONE,? U. MANFREDINIT AND RUTH SANGERS INTRODUCTION Hereditary cataracts are numerous and usually transmitted as autosomal dominants or recessives (reviewsin Frangois, 1959 ; Waardenburg, 1961). I n his inventory of X-linked conditions in man, McKusick (1962) lists congenital total cataract among the mutations for which X-linkage is considered proved or very likely. This is based on the report of two families. The first family was summarily described by Stieren in 1907 and a pedigree reconstructed from his description was reproduced by Waardenburg (1961). I n Stieren’s report seven of the seventeen affected males are said to have had congenital hydrocephalus and all the affected males were born blind and died in convulsions. This indicates that the condition could have been a more complex syndrome of which the cataract was only one of the symptoms. (It should be noted that a syndrome of X-linked hydrocephalus, but without ocular signs, has been isolated by Edwards (1961).) In Stieren’s pedigree it is also difficultto account for the unaffected males (11.1 and 1.4) who both had daughters who gave birth to affected males. The second family was reported by Halbertsma (1934) and the pedigree is also http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

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References (5)

Publisher
Wiley
Copyright
Copyright © 1967 Wiley Subscription Services, Inc., A Wiley Company
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/j.1469-1809.1967.tb01253.x
Publisher site
See Article on Publisher Site

Abstract

X-Linked cataract BY M. FRACCARO,* G. MORONE,? U. MANFREDINIT AND RUTH SANGERS INTRODUCTION Hereditary cataracts are numerous and usually transmitted as autosomal dominants or recessives (reviewsin Frangois, 1959 ; Waardenburg, 1961). I n his inventory of X-linked conditions in man, McKusick (1962) lists congenital total cataract among the mutations for which X-linkage is considered proved or very likely. This is based on the report of two families. The first family was summarily described by Stieren in 1907 and a pedigree reconstructed from his description was reproduced by Waardenburg (1961). I n Stieren’s report seven of the seventeen affected males are said to have had congenital hydrocephalus and all the affected males were born blind and died in convulsions. This indicates that the condition could have been a more complex syndrome of which the cataract was only one of the symptoms. (It should be noted that a syndrome of X-linked hydrocephalus, but without ocular signs, has been isolated by Edwards (1961).) In Stieren’s pedigree it is also difficultto account for the unaffected males (11.1 and 1.4) who both had daughters who gave birth to affected males. The second family was reported by Halbertsma (1934) and the pedigree is also

Journal

Annals of Human GeneticsWiley

Published: Aug 1, 1967

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