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Nucleolus organizer region heteromorphism in patients with Down syndrome and their parents / Nazmy, N.A.;Kotb, S.M.;Mokhtar, M.M.;Ismail, S.R.

Tác giả : Nazmy, N.A.;Kotb, S.M.;Mokhtar, M.M.;Ismail, S.R.

Năm xuất bản : 1999

Chủ đề : 1. Abortion, Spontaneous. 2. Case-Control Studies. 3. Down Syndrome. 4. Infant, Newborn. 5. Karyotyping. 6. Maternal Age. 7. Nondisjunction, Genetic. 8. Nucleolus Organizer Region. 9. Pedigree. 10. Pregnancy.

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299-306 The study aimed to evaluate the role of nucleolus organizer region [NOR] heteromorphism as an etiological factor for parental nondisjunction in Down syndrome by comparing 25 patients affected by Down syndrome, and their parents with a control group of 80 non-affected Egyptians. All parents had normal karyotypes. The average modal number per parent of Ag-positive NORs was significantly higher in parents than controls. A significant difference in the size of the double-NOR variants [dNORs] was found. The mean maternal and paternal ages were significantly lower, with a significant increase in spontaneous abortions, for dNOR[+] couples compared with dNOR[-] couples

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https://iris.who.int/handle/10665/118708