Cytogenetics profile of student with syndromic mental retardation on special schools in Banjarmasin

Siti Wasilah, Husnul Khatimah, Tri Indah Minarni

Abstract


Objective:  This descriptive study aims to describe the cytogenetic profile of students with mental retardation disorders on special school in Banjarmasin conducted since 2012-2013.

Material and methods:  Cytogenetic profile described based the existence of free trisomy 21, trisomy 21 with translocation, mosaic trisomy 21 and trisomy 21 partially or in the form of numeric aberration and structure of chromosomal abnormalities such as fragile X, specific deletions of chromosomal segments or the presence of a ring chromosome forms.

Result:  The results obtained from the study of 22 students with physical signs of mild to severe syndromic mental retardation. The results of cytogenetic examination showed most of the sample (77.78%) with free trisomy 21 (karyotype 47, XX, + 21 or 47, XX, + 21) or a classic type of Down syndrome, 1 sample with mosaic karyotype: 46, XY (1%) / 47, XY, + 21, 1 sample with structural abnormalities of chromosomes 22 (karyotype: 46, XY, ring 22) and 2 samples with normal karyotype (karyotype: 46, XY or 46, XX).

Conclusion:  Cytogenetic profile of students with syndromic mental retardation on special school in Banjarmasin are free trisomy 21, mosaic trisomy 21, structure aberration (ring chromosome 22), and a normal karyotype.


Keywords


Cytogenetics; Syndromic; Mental; Retardation

Full Text:

PDF

References


Anonim. American Association on Mental Retardation. Mental Retardation: Definition, Classification, and Systems of Supports. 10th ed. Washington, DC: American Association on Mental Retardation, 2002.

Capone GT (2001) Down syndrom: advances in molecular biology and the neurosciences. J Dev Behav Pediatr.22(1):1-20.

Cuckle HS (2005) Primary prevention of down’s syndrome. International Journal of Medical Sciences;2(3):93-99.

Devlin L, Morrison PJ (2004) Accuracy of the clinical diagnosis of down syndrome. The Ulster Medical Journal.73(1):4-12.

Durkin MS, Khan NZ, Davidson LL. Prenatal and Postnatal Risk Factors for Mental Retardation among Children in Bangladesh. Am J Epidemiol. 2000; 152:111-119.

Firth HV, Hurst JA. Hall JG, ed. Oxford Desk Reference Clinical Genetics. New York 2005.

Rimoin D L, Connor J M, Pyeritz R E, Korf BR. Emery and Rimoin's Principles and Practice of Medical Genetics (2002). 4th edition. New York

Sherman SL, Freeman SB, Allen EG, Lamb NE. Risk factors for nondisjunction of trisomy 21. Cytogenetic Genome Res .2005;111:273–280.

Volio IC (2006) The down syndrome in the XXI century. Semestral Magazine;11:1-10.


Refbacks

  • There are currently no refbacks.