Chromosomal Anomalies investigation in Patients with Mental Retardation

سال انتشار: 1392
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 579

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شناسه ملی سند علمی:

NBCI08_0721

تاریخ نمایه سازی: 29 شهریور 1394

چکیده مقاله:

The incomplete development of mental capacities and associated behavioralabnormalities are referred to as mental retardation (MR). This is the largest neuropsychiatric disorder in each civilized society affecting 2.5-3% of the total population. Chromosomalabnormalities are important cause of mental retardation. The purpose of this study wasabnormalities are important cause of mental retardation. The purpose of this study wasSubjects and Methods: Cytogenetic investigations were carried out on 83 mentallyabbnormal individuals that they were referred to Dr. Bazrafshani Medical Genetic Laboratoryin Kerman during 1390-1391. These cases were referred mainly as suspected Down orEdward syndrome, delayed milestones, mental retardation, Dysmorphic etc. Three to fivemilliliter of sodium-heparinized whole blood was collected from each patient. 0.5ml of eachpatient blood sample was added to 5ml of a complete media containing RPMI 1640 andphytohemoglutinin followed by standard G-banding technique. In each case a minimum of 20metaphases patterns were examined.Results: In this study 28 (33.73%) patients had normal karyotype. and 55 (66.26%) patientshad chromosomal abnormalities. Trisomy 21 was found to be the most frequent autosomalaberration both amongst males and females. 46 (55.42%) patients had trisomy forchromosome 21 including 2 patients with mosaic and 5 with Robertsonian translocation. 2(2.4%) patients had Edward Syndrome, 1 of them was terrner syndrome and 6 (7.22%) casesshowed other chromosomal abnormalities.Conclusion: Genetic analysis by cytogenetic methods thus proved to be essential indiagnostic and categorizing patients. Determining of parents karyotypes for those patientswith chromosome abnormality can help to establish an inheritance or reappearance risk in thefamily, however, we strongly recommend a high resolution techniques such as FISH, MLPAor array CGH should be carried out on patients with MR and dysmorphism, especially thosewith normal karyotype.

نویسندگان

Mohammad reza bazrafshani

Medical Genetics Department, kerman University of Medical science, Kerman, Iran

Najmeh shojaee

Dr. Bazrafshani Medical Genetics Laboratory, Kerman, Iran

Najmeh Askari

Dr. Bazrafshani Medical Genetics Laboratory, Kerman, Iran

Najmeh Rameshi

Dr. Bazrafshani Medical Genetics Laboratory, Kerman, Iran