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BJMG 15/2 (2012) 29-34
10
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Frouzandeh Mahjoubi, Genetics Department, Iran Blood Transfusion Organization
Research Centre, High Institute for Research and Education in Transfusion Medicine, Hemmat Express Way, Next to
the Milad Tower, Tehran, Iran; Tel
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ac
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Chromosome anomalies were identified in 205
of the patients (23
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The majority were Down’s
syndrome cases (n = 138)
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The remainder (n =
34) had other chromosomal abnormalities including
structural chromosome aberrations (n = 23), marker
chromosomes with an unknown origin (n = 3), sex
chromosome aneuploidy (n = 6) and trisomy 18 (n
= 2)
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Keywords: Chromosome abnormality, Idiopathic mental retardation (MR), Iranian patients
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Mental retardation is found in individuals either as an
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Genetics Department, Iran Blood Transfusion Organisation (IBTO)
Research Centre, High Institute for Research and Education in
Transfusion Medicine,Tehran, Iran
2
Clinical Genetics Department, National Research Institute of
Genetic Engineering and Biotechnology, Tehran, Iran
1

isolated finding, or as part of an underlying disorder
[1]
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3%
[2]
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It is known that numerical and structural chromosomal anomalies are one of the most common
causes of MR seen in these patients [4-12]
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Mental retardation is the reason
for a substantial portion of referrals of patients and
families to the genetic counseling unit
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MATERIALS AND METHODS
Blood samples were collected from 865 idiopathic MR patients who were refereed to IBTO for
cytogenetic study
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The median age of the patients was 9
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The patients enrolled in this study had unexplained
MR
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CHROMOSOME STUDY IN MR PATIENTS

Chromosomal analysis was performed on phytohemagglutinin (PHA)-stimulated peripheral lymphocyte cultures of the patients using standard cytogenetic methods [13,14]
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Briefly, peripheral blood lymphocytes were
cultured in 5 mL RPMI 1640 (Gibco®; Invitrogen,
Paisley, Scotland, UK), supplemented with 20%
(v/v) fetal bovine serum (GIBCO®; Invitrogen) and
10 µL/mL phytohemagglutinin (PHA) (GIBCO®;
Invitrogen) at 37°C

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