Open AccessAutosomal recessive disorders among patients attending the genetics clinic in Alexandria
Author(s) -
Morad M. Mokhtar,
S. M. Kotb,
Saloua Ismail
Publication year - 1998
Publication title -
eastern mediterranean health journal/eastern mediterranean health journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.442
H-Index - 47
eISSN - 1687-1634
pISSN - 1020-3397
DOI - 10.26719/1998.4.3.470
Subject(s) - consanguinity , medicine , inbreeding , medical genetics , pediatrics , hereditary diseases , population , human genetics , genetics , biology , pathology , gene , disease , environmental health
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] 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]