CYTOGENETIC FINDINGS IN MENTALLY
RETARDED IRANIAN PATIENTS
Nasiri F1, Mahjoubi F1,2,*, Manouchehry F1, Razazian F1, Mortezapour F1, Rahnama M1
*Corresponding Author: Dr. 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.: +9821-44580389; Fax: +9821-44580399; E-mail: Frouz@ nigeb.ac.ir
page: 29
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REFERENCES
1. Bradinova I, Shopova S, Simeonov E. Mental
retardation
in childhood: clinical and diagnostic
profile in 100 children. Genet Couns. 2005;
16(3): 239-248.
2. Shiue CN, Lin YH, Kuan LC, Lii LM, Tsai WH,
Chen YJ, Lin SJ, Kuo PL. Cytogenetic surveillance
of mentally-retarded school children in
southern Taiwan. J Formos Med Assoc. 2004;
103(3): 218-224.
3. van Karnebeek CD, Jansweijer MC, Leenders
AG, Offringa M, Hennekam RC. Diagnostic
investigations in individuals with mental retardation:
a systematic literature review of their
usefulness. Eur J Hum Genet. 2005; 13(1): 6-25.
4. Li SY, Tsai CC, Chou MY, Lin JK. A cytogenetic
study of mentally retarded school children in
Taiwan with special reference to the fragile X
chromosome. Hum Genet. 1988; 79(4): 292-296.
5. Coco R, Penchaszadeh VB. Cytogenetic findings
in 200 children with mental retardation and multiple
congenital anomalies of unknown cause.
Am J Med Genet. 1982; 12(2): 155-173.
6. Schreppers-Tijdink GA, Curfs LM, Wiegers A,
Kleczkowska A, Fryns JP. A systematic cytogenetic
study of a population of 1170 mentally
retarded and/or behaviourly disturbed patients
including fragile X-screening. The Hondsberg
experience. J Genet Hum. 1988; 36(5): 425-446.
7. van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma
EK, Smeets DF, Redeker EJ, Hennekam
RC, Hoovers JM. Prospective screening for
subtelomeric rearrangements in children with
mental retardation of unknown aetiology: the
Amsterdam experience. J Med Genet. 2002;
39(8): 546-553.
8. Bocian E, Mazurczak T, Stańczak H. Cytogenetic
studies in clinical diagnosis analysis of 1611 examination
results. Przegl Lek. 1995; 52(1): 5-9.
9. Butler MG, Singh DN. Clinical and cytogenetic
survey of institutionalized mentally retarded patients
with emphasis on the fragile-X syndrome.
J Intellect Disabil Res. 1993; 37(Pt 2): 131-142.
10. Celep F, Sönmez FM, Karagüzel A. Chromosomal
abnormalities in 457 Turkish patients with
MCA/MR. Turk J Pediatr. 2006; 48(2): 130-134.
11. Srsen S, Misovicová N, Srsnová K, Volna J. Chromosome
aberrations in a group of mentally retarded
persons. Cesk Psychiatr. 1989; 85(1): 9-16.
12. Xu J, Chen Z. Advances in molecular cytogenetics
for the evaluation of mental retardation. Am J Med
Genet C Semin Med Genet. 2003; 117C: 15-24. 13. Gosden CM, Davidson C, Robertson M. Lymphocyte
culture. In: Rooney DE, Czepulkowski
BH, Eds. Human Cytogenetics: A Practical Approach,
Vol. I: Constitutional Analysis. Oxford:
IRL Press Ltd. 1992: 31-54.
14. Benn PA, Perle MA. Chromosome staining
and banding techniques. In: Rooney DE,
Czepulkowski BH, Eds. Human Cytogenetics:
A Practical Approach, Vol. I: Constitutional
Analysis. Oxford: IRL Press Ltd. 1992: 91-118.
15. Liehr T, Weise A. Frequency of small supernumerary
marker chromosomes in prenatal, newborn,
developmentally retarded and infertility
diagnostics. Int J Mol Med. 2007; 19(5): 719-731.
16. Mowat DR, Croaker GDH, Cass DT, Kerr BA,
Chaitow J, Ades LC, Chia NL, Wilson MJ.
Hirschsprung disease, microcephaly, mental
retardation, and characteristic facial features:
delineation of a new syndrome and identification
of a locus at chromosome 2q22-q23. J Med
Genet. 1998; 35(8): 617-623.
17. Wu X, Rush JS, Karaoglu D, Krasnewich D,
Lubinsky MS, Waechter CJ, Gilmore R, Freeze
HH. Deficiency of UDP-GlcNAc:dolichol
phosphate N-acetylgluco-samine-1 phosphate
transferase (DPAGT1) causes a novel congenital
disorder of glycosylation type II. Hum Mutat.
2003; 22(2): 144-150.
18. Kriek M, White SJ, Bouma MC, Dauwerse HG,
Hansson KB, Nijhuis JV, Bakker B, van Ommen
GJ, den Dunnen JT, Breuning MH. Genomic
imbalances in mental retardation. J Med Genet.
2004; 43(4): 362-370.
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