reconsideration of the cat eye syndrome: reciprocal translocation t(1l,22) leading to partial trisomy of llq and 22.

نویسندگان

r karimi-nejad from the department of pathology and genetics, iran university of medical sciences

m ghofrani, the •• departments of pediatrics and opthalmology, shahid beheshti university of medical sciences, tehran, islamic republic of iran.

a najafi from the departments of pediatrics and opthalmology, shahid beheshti university of medical sciences, tehran, islamic republic of iran.

m.h karimi-nejad from the department of pathology and genetics, iran university of medical sciences,tehran, islamic republic of iran.

چکیده

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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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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عنوان ژورنال:
medical journal of islamic republic of iran

جلد ۳، شماره ۱، صفحات ۸۳-۸۶

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