CHROMOSOMAL ANALYSIS OF MENTALLY RETARDED CHILDREN WITH MICROCEPHALY

Rusdi, Wiyosa Waluyan and Afadiyanti, Alfi and Putra, Farmaditya Eka (2011) CHROMOSOMAL ANALYSIS OF MENTALLY RETARDED CHILDREN WITH MICROCEPHALY. Undergraduate thesis, Faculty of Medicine.

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Abstract

Background: Mental retardation is a common condition with the incidence of 1- 3% of the entire population; about 25% - 50% of them are genetic causes. Chromosomal causes account for up to 28%. Microcephaly and mental retardation may occur together as a syndrome. Cytogenetic and molecular analysis has been approved to definitively diagnose those syndromes. This research is aimed to know the chromosomal characteristic of children with mental retardation and microcephaly. Method: This research is observational descriptive study with retrospective data taken start from 2007-2009. The data of head circumference and chromosome analysis from 39 children were processed. The data are then presented as a descriptive statistic after being analyzed using Microsoft Excel 2007. Results: Chromosomal analysis results shows 18 (46.15%) children with 46,XX karyotype, 11 (28.21%) children with 46, XY karyotype, 5 (12.82%) children with 47,XX+21 karyotype, and 4 (10.26%) children with 47,XY+21 karyotype. There is also one Robertsonian translocation with 46,XX,+21, t(14;21) karyotype. Conclusion: Normal karyotype (46,XX and 46,XY) were found in 29 (74.36%) children. Visible chromosomal abnormalities detected includes 9 cases of Down syndrome trisomy 21 and one case of Robertsonian translocation with t(14;21) karyotype. Keyword: Mental retardation, microcephaly, chromosomal analysis

Item Type:Thesis (Undergraduate)
Subjects:R Medicine > R Medicine (General)
Divisions:Faculty of Medicine > Department of Medicine
Faculty of Medicine > Department of Medicine
ID Code:37450
Deposited By:Ms Lutfiatun Heni
Deposited On:03 Dec 2012 10:42
Last Modified:03 Dec 2012 10:42

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