Genetic Diseases in Iraq

Hamamy, Hanan

doi:10.1007/978-3-642-05080-0_10

Cited by 4 publications

(2 citation statements)

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“…In a report by Hamamy et al [ 10 ] on a Jordanian population with a first cousin marriage rate of 20-30%, autosomal recessive conditions were significantly raised in patients with genetic disorders and consanguineous marriage compared to non-consanguineous marriage and the general population. In a study from Baghdad, Iraq, with a first cousin marriage rate of 29%, in a genetic counselling clinic, 31% of all referrals were categorized as autosomal recessive in aetiology [ 23 ]. Reports by Najmabadi et al [ 24 ] and Kuss et al [ 25 ] suggest an increased rate of autosomal recessive aetiology for hereditary mental retardation in Iranian patients from consanguineous marriages.…”

Section: Discussionmentioning

confidence: 99%

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

Behjati¹,

Firouzabadi²,

Kahrizi³

et al. 2011

aoms

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IntroductionMental retardation (MR) has heterogeneous aetiology mostly with genetic causes. Chromosomal aberrations are one of the most common causes of MR. Reports on chromosome abnormality rate among consanguineous families are sparse. In order to identify the chromosome abnormality rate in idiopathic mental retardation from consanguineous marriages, a total of 322 Iranian families with positive family history for MR were investigated in the Genetics Research Center.Material and methodsIn the majority of families (92%) at least two sibs were affected with MR and none had specific chromosomal syndromes such as Down syndrome. Standard cytogenetic techniques using high resolution GTG banding were carried out on all the patients.ResultsThe overall chromosome abnormality rate contributing to mental retardation was 1.24% (4 cases), which comprised 46,XY,der(18)t(4;18)(q31.1;q23)mat; 45,XY,-21,-22,+der(22)t(21;22)(q21.1;q13.33)mat; 46,XY,rec(2)dup(2p)inv(2)(p25.1q37.3)pat, and 46,XY,der(11)t(10;11)(q25.2;q25)pat.ConclusionsAlthough the most likely genetic cause of mental retardation in patients with consanguineous parents is autosomal recessive, the fact that 1.24% of our patients had chromosomal abnormalities emphasizes the importance of cytogenetic investigation as the first laboratory genetic tests for all MR patients. To our knowledge, this is the first report on the rate of chromosome abnormality among patients with idiopathic mental retardation from consanguineous marriages.

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Section: Discussionmentioning

confidence: 99%

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

Behjati¹,

Firouzabadi²,

Kahrizi³

et al. 2011

aoms

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“…Data about inherited neurological disorders in Iraq are scanty despite high prevalence of these diseases and their inevitable consequences of disability and early death. [4][5][6][7][8][9] During 2014, Gleeson Laboratory (Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, Rockefeller University, United States) offered its collaboration with the researchers in performing genetic testing. Late in 2014, an opportunity was offered to the researchers an opportunity was offered to the researchers to visit the Centogene laboratory in Rostock, Germany and observe their facilities for genetic testing.…”

Section: Introductionmentioning

confidence: 99%

Molecular Genetic Testing in Pediatric and Adult Neurology in Iraq: New Experience and Challenges from a Developing Country

Saadi

Yassin

Makhseed

et al. 2020

Journal of Pediatric Neurology

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Inherited neurological disorders are reasonably common in pediatric and adult neurology practices. Genetic testing for such disorders does carry promise, but is fraught with challenges and difficulties. This study was conducted to assess the utility of genetic testing in a cohort of 200 patients who had neurological disorders, suspected to be of inherited origin, and for whom molecular genetic testing was requested during the period 2014 to 2019. Two hundred and eight tests were ordered. The characteristics of that practice were reviewed. Further, we summarized the challenges and highlighted the concerns that were raised. The medical records of 200 patients were retrieved and reviewed to assess the demographic characteristics of the cohort, their clinical presentation, genetic test requested for each, and the interpretation of the test results.

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