کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3038185 | 1184451 | 2007 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Interstitial deletion of a proximal 3p: A clinically recognisable syndrome
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Interstitial deletion of a proximal 3p: A clinically recognisable syndrome Interstitial deletion of a proximal 3p: A clinically recognisable syndrome](/preview/png/3038185.png)
چکیده انگلیسی
Interstitial deletions of the proximal short arm of chromosome 3 occurring as constitutional aberrations are rare and a defined clinical phenotype is not established yet. We report on a 30-months-old girl with distinct facial features (square facies, plagiocephaly, broad forehead, broad nasal bridge, long philtrum and low set ears) and psychomotor/speech delay associated with an interstitial deletion of 3p12 chromosomal band, del(3)(p12p12). Clinical manifestations of our child were compared with those of other eight patients with the same deletion previously described to further delineate the proximal 3p deletion syndrome.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 29, Issue 5, June 2007, Pages 312–316
Journal: Brain and Development - Volume 29, Issue 5, June 2007, Pages 312–316
نویسندگان
Cristina Lalli, Cinzia Galasso, Adriana Lo Castro, Anna Maria Nardone, Ambrogio Di Paolo, Paolo Curatolo,