کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5907561 | 1160030 | 2012 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects
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کلمات کلیدی
PDABPDCGHPITX1OMIMSPOCK1Fbn2comparative genomic hybridization - ترکیب هیبریداسیون ژنومی مقایسه شدهBronchopulmonary dysplasia - دیسپلازی ریویCraniofacial - سرخوشیgestational age - سن حاملگیPatent ductus arteriosus - مجرای شریانی بازOnline Mendelian Inheritance in Man - وراث آنلاین مندلیان در انسانGenotype–phenotype - ژنوتیپ-فنوتیپ
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects](/preview/png/5907561.png)
چکیده انگلیسی
We describe here a newborn with a de novo 22.6Â Mb interstitial deletion of chromosome 5q22.3. The clinical findings included brachycephaly, a high forehead, hypertelorism with prominent eyes, low-set ears, clenched hands, club feet, a prominent coccyx with hair, ambiguous genitalia, inguinal hernia, heart defect and severe failure to thrive. This case had a more severe phenotype, compared with the previous reports of interstitial 5q syndrome. High resolution multicolor banding and array comparative genomic hybridization (array CGH) analysis delineated the breakpoints at 5q22.3 and 5q31.2. There were no obvious candidate genes for the specific correlation with the phenotypes except a PITX1 gene associated with the phenotype of club feet. Further cumulative data based on the molecular approach are needed to establish the genotype-phenotype correlation and to understand the role and influence of the genes in the interstitial 5q syndrome.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 494, Issue 1, 15 February 2012, Pages 105-108
Journal: Gene - Volume 494, Issue 1, 15 February 2012, Pages 105-108
نویسندگان
Seungok Lee, Hyojin Chae, In Yang Park, Myungshin Kim, Yonggoo Kim, Jong Chul Shin, Juyoung Lee, Jungok Son,