منابع مشابه
[Cat eye syndrome].
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 anomalie...
متن کاملCat eye syndrome owing to tetrasomy 22 pter - * ql 1
associated with advanced parental age' and may arise from unequal crossing over during gametogenesis. We are unaware of any instance ofrecurrence or inheritance of an autosomal direct duplication. Two inherited duplications of the X chromosome have been reported, but with minor or no physical effects in the carrier females.2 3The risk of recurrence is probably low but unknown and therefore ante...
متن کاملThe aetiology of the cat eye syndrome reconsidered.
The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary tracts anomalies, and mental and physical retardation. An analysis of published reports revealed that of the 57 reported cases, only 21 showed...
متن کاملRECONSIDERATION 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.
متن کاملPork-cat syndrome?
Pork–cat syndrome was first described by Drouet et al, in 1994. It is a rare pathology, seen in patients sensitized to cat epithelium, which present symptoms suggestive of IgE-mediated hypersensitivity upon ingestion of pork meat. These symptoms range from urticaria with/without angioedema, to potentially fatal anaphylaxis. This rare syndrome is a result of a cross-reactivity of a protein of ap...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2014
ISSN: 1757-790X
DOI: 10.1136/bcr-2014-203923