Chromosome studies and genetic counseling in Baghdad one year's experience

ABSTRACT

A genetic service unit was established in March 1981 in the Yarmouk Teaching Hospital in Baghdad. This preliminary report covers the experience of the unit over a period of one year, during which time 135 successful lymphocyte cultures were performed for standard chromosome analysis and karyotyping. The patients were classified into five groups, based on the indications for chromosome studies, and the groups were then separately studied to determine the percentage of chromosome abnormalities in each and whether or not there were any clinical stigmata strongly suggesting abnormal karyotypes. Abnormal karyotypes were present in 17.8% of the patients of those with a normal karyotype, 20.8% were diagnosed as having an autosomal recessive or X- linked recessive condition. Twenty four families were referred for genetic counselling in 17 of these a definite diagnosis was reached [12 autosomal recessive, 2 X-linked and 3 multifactorial conditions]. It seems that a large number of undiagnosed autosomal recessive diseases present to the unit, and this high frequency may be related to the high consanguinity rate in the community. In these cases genetic counselling could be a positive means of reducing the incidence of birth abnormalities