Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22)
نویسندگان
چکیده
منابع مشابه
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.
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To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.
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The aim of this study was to analyze the techniques for intraocular lens (IOL) implantation in patients with coloboma of the iris. A retrospective cohort study was used to analyze the degree of iris coloboma and the characteristics of the crystalline lens in 56 patients with iris coloboma. The patients with a lesser degree of coloboma of the iris and an intact lens capsule were treated by iris ...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2002
ISSN: 0007-1161
DOI: 10.1136/bjo.86.11.1316