Investigation of genetic causes of intellectual disability in kerman province, South East of iran.

ABSTRACT:

Background

Intellectual disability (ID) has a worldwide prevalence of 1-3% and results from extraordinary heterogeneous. To shed more light on the causes of ID in Kerman Province, in Southeast Iran, we set out in 2008 to perform systematic clinical studies and homozygosity mapping in large Iranian families with ID.

Methods

Fifty seven families with a minimum of two mentally retarded children from Kerman Province were initially tested for metabolic disorders, by Tandem mass spectrometry. Fragile X testing and standard karyotyping were performed for all probands of families. Cases with autosomal recessive (AR) pattern of inheritance and microcephaly were subjected to homozygosity mapping by using several microsatellite markers for known MCPH loci.

Results

Three out of s

SUBMITTER: Soltani Banavandi MJ 

PROVIDER: S-EPMC3372047 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature