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(1937)
A pedigree of hereditary cataract illustrating sex-limited type
V. McKusick (1962)
On the X Chromosome of ManThe Quarterly Review of Biology, 37
J. Edwards (1961)
The Syndrome of Sex-linked HydrocephalusArchives of Disease in Childhood, 36
(1907)
A study in atavistic descent of congenital cataract through four generations. Ophthal
(1907)
A study in atavistic descent of congenital cataract through four generations
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 Stierenâs 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 Stierenâs 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
Annals of Human Genetics – Wiley
Published: Aug 1, 1967
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