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Acta Medica Iranica، جلد ۴۷، شماره ۳، صفحات ۲۳۳-۲۴۰
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عنوان انگلیسی Phenotypic and Cytogenetic Variety of Pure Partial Trisomy
چکیده انگلیسی مقاله Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocations and consequently the phenotype of patients is not typical of pure partial trisomy 16p. R-banding and fluorescence in situ hybridization (FISH) in our patients were in favour of de novo pure partial trisomy of 16p. Furthure clinical and paraclinical analysis of our three cases in addition to a review of literature and analysis of published clinical and cytogenetic data on five cases of pure partial duplications of chromosome 16p reported until now lead to the delineation of three groups of duplications. Patients with short proximal 16p11~p12 euchromatic duplication considered as "silent" duplication and no clinical anomaly are included in the first group. The second group with a larger 16p11-p12~p13 duplication is caracterised by a particular phenotype including severe mental retardation, dysmorphism, variable malformations and recurrent infections. The third group has terminal 16p13-pter duplication and is not well defined to date. Based on our cases and reported cases of pure partial trisomy of 16p in the literature we propose diagnostic measures in case of an elongated 16p chromosome encountered in prenatal chromosome analysis.
کلیدواژه‌های انگلیسی مقاله Chromosome 16,pure partial trisomy,interstitial duplication
نویسندگان مقاله مهرداد نوروزی نیا | mehrdad noruzinia
department of hematology, school of medicine, tarbiat modares university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه تربیت مدرس (Tarbiat modares university)

genevieve lefort | genevieve lefort
service de génétique médicale, chu arnaud de villeneuve, montpellier, france.


anne ماریه chaze | anne marie chaze
service de génétique médicale, chu arnaud de villeneuve, montpellier, france.


ژاک puechberty | jacques puechberty
service de génétique médicale, chu arnaud de villeneuve, montpellier, france. and igh-cnrs, upr1142, montpellier, france.


franck pellestor | franck pellestor
igh-cnrs, upr1142, montpellier, france.


پاتریشیا blanchet | patricia blanchet
service de génétique médicale, chu arnaud de villeneuve, montpellier, france.


والری cacheux | valerie cacheux
service de génétique médicale, chu arnaud de villeneuve, montpellier, france.


پییر sarda | pierre sarda
service de génétique médicale, chu arnaud de villeneuve, montpellier, france.
نشانی اینترنتی http://acta.tums.ac.ir/index.php/acta/article/view/3582
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Articles
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