کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9935831 | 1569555 | 2005 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Double aneuploidy involving trisomy 7Â with Potter sequence
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
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چکیده انگلیسی
We report a prenatal case of double aneuploidy (consisting of chromosome 7Â and X) with the features of Potter sequence. Of the stillborn fetus, skin fibroblast cultures were performed and fluorescence in situ hybridization (FISH) technique was also used for further investigation. On physical examination; the fetus was found to have malformed ears, micrognatia, hypertelorism, abnormal extremities, rocker-bottom feet and abnormal external genitalia and polycystic right kidney was seen after an extensive autopsy. As amniocentesis and cordocentesis materials revealed X chromosome mosaicism, trisomy 7Â was detected in the skin fibroblast culture of the ex fetus and karyotype evaluated as composite; 46~47,X,+7,-X[cp18]. FISH results confirmed the double aneuploidy and also revealed XX and XXXX cell lines. Comparison with the previously reported cases of trisomy 7Â with Potter syndrome suggests a possible link (if not coincidental) between trisomy 7Â and Potter syndrome in our case. This is the first reported case of double aneuploidy involving trisomy 7Â with the features of Potter syndrome.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 48, Issue 1, JanuaryâMarch 2005, Pages 67-73
Journal: European Journal of Medical Genetics - Volume 48, Issue 1, JanuaryâMarch 2005, Pages 67-73
نویسندگان
Aydan Biri, Meral Yirmibes KaraoÄuz, Gönül Didem Ä°nce, Mehmet Ali Ergün, Sevda MenevÅe, Banu Bingöl,