سال انتشار: ۱۳۹۳
محل انتشار: اولین کنگره بین المللی و سیزدهمین کنگره ژنتیک ایران
تعداد صفحات: ۱
نویسنده(ها):
Sanaz Arzhangi – Genetic Research Center- Welfare and Rehabilitation University- Tehran – IRAN
seyedeh sedigheh Abedini – Genetic Research Center- Welfare and Rehabilitation University- Tehran – IRAN
zohreh Fattahi – Genetic Research Center- Welfare and Rehabilitation University- Tehran – IRAN
masoumeh Hosseini – Genetic Research Center- Welfare and Rehabilitation University- Tehran – IRAN

چکیده:

Intellectual disability (ID) is an unresolved health care problem worldwide and an enormous socioeconomic burden. Our goal for genetic counseling is providing reliable data for the best decision infamilies which suffering ID. Over last10 years total of 985 Iranian families with ID have been referred to Genetics Research Centerof USWR.After obtaining informed consent form, completing clinical profile was performed.As a primary investigation, karyotyping, Fragile X testing and metabolic screening have been performed.A total of 985 families, 859(87.2%) with autosomal recessive identified, 32(3.2%) with autosomal dominan and 94(9.5%) with X-linked recessive pattern. Two hundred forty (24.3%) out of 985 familieswere associated with microcephaly of whom 55 families the causative MCPH genes have been detected. A total of 46(4.6%) families identified with fragile X syndrome. In 18(1.8%) cases,choromosomal abnormalities have been detected. Among the total families with autosomal recessive non-syndromic and syndromic ID, 150(15.22%)different mutations identified using linkage analysis and next generation sequencing in families. Intotal, genetic counseling has been performed for 224(21.7%) cases out of 214 ID families with known identified genetic defects and it provides carrier detection and prenatal diagnosis services for 696 apparently healthy siblings in 214 families . Genetic counseling is helpful for families by providing information about recurrence risk, carrier detection and offering prenatal diagnosis for future pregnancies. Therefore genetic counseling is a suitable method for limiting and reducing the prevalence of ID in each population.