کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2814220 | 1569534 | 2008 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21 Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21](/preview/png/2814220.png)
چکیده انگلیسی
We studied a child with apparent monosomy of chromosome 21. Cytogenetic, FISH and microsatellite analyses revealed a 45,X,−21,+der(X)t(X;21)(q25;q21.1) karyotype resulting from a de novo, unbalanced, X;21 non-reciprocal translocation of paternal origin, with partial monosomy of chromosomes 21 and X. An extreme, skewed X-inactivation pattern of the der(X) chromosome was demonstrated. Skewed inactivation probably accounted for a mild phenotype with respect to Xq25 → qter deletion while propagation of inactivation to the adjacent 21q region may account for mild clinical features associated to distal 21q monosomy.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 51, Issue 6, November–December 2008, Pages 588–597
Journal: European Journal of Medical Genetics - Volume 51, Issue 6, November–December 2008, Pages 588–597
نویسندگان
Leila C.A. Cardoso, Lúcia Moraes, Maria Jesus E. Camilo, Milene V. Mulatinho, Hilda Ramos, José Carlos C. Almeida, Juan C. Llerena Jr., Héctor N. Seuánez, Fernando R. Vargas,