loading
  • Trang chủ
  • Sách, tuyển tập
  • Autosomal recessive disorders among patients attending the genetics clinic in Alexandria / Mokhtar, M.M.;Kotb, S.M.;Ismail, S.R.
Sách, tuyển tập Tài liệu điện tử

Autosomal recessive disorders among patients attending the genetics clinic in Alexandria / Mokhtar, M.M.;Kotb, S.M.;Ismail, S.R.

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

Năm xuất bản : 1998

Chủ đề : 1. Consanguinity. 2. Genes, Recessive. 3. Genetic Counseling. 4. Genetic Diseases, Inborn. 5. Health Surveys. 6. Hemoglobinopathies. 7. Microcephaly.

Chia sẻ

Thông tin chi tiết

Tóm tắt :

470-479 A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder; these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01]
Chia sẻ


Hiển thị MARC

 Thông tin dữ liệu nguồn

 Thư viện  Ký hiệu xếp giá  Dữ liệu nguồn
Tổ chức y tế thế giới
https://iris.who.int/handle/10665/118352