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Title: Autosomal recessive disorders among patients attending the genetics clinic in Alexandria
Authors: Mokhtar, M.M.
Kotb, S.M.
Ismail, S.R.
Issue Date: 1998
Language: English
Abstract: 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]
Description: 470-479
Keywords: Genetic Diseases, Inborn
Consanguinity
Health Surveys
Genetic Counseling
Hemoglobinopathies
Microcephaly
Subject: Genes, Recessive
URI: http://www.who.int/iris/handle/10665/118352
ISSN: 1020-3397
Other Identifiers: http://applications.emro.who.int/emhj/0403/emhj_1998_4_3_470_479.pdf
Appears in Collections:EMRO Journal Articles (EMHJ)



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