[Cat eye syndrome].
نویسندگان
چکیده
NEUROLOGICAL DISORDERS mental retardation mental retardation OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects strabismus convergent, esotropia, misalignment of the visual axes of the eyes iris anomalies iris, coloboma lens, defects Cardio-facio-gastrointestinal-urological disorder. Eye colobomas, anal atresia, preauricular appendages or fistulae, usually mental retardation, heart defects, other visceral/skeletal anomalies. Four copies of the 22q11 region, because of a small supernumerary marker chromosome.
منابع مشابه
RECONSIDERATION OF THE CAT EYE SYNDROME: RECIPROCAL TRANSLOCATION T(1l,22) LEADING TO PARTIAL TRISOMY OF llq AND 22.
We are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter→22qll:: llq23 → llqter in a child with multiple malformations whose mother has a balanced reciprocal translocation t(1l,22) with a history of two previous abortions. We emphasize the importance of family study in such cases.
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ورودعنوان ژورنال:
- Journal francais d'ophtalmologie
دوره 38 4 شماره
صفحات -
تاریخ انتشار 2015