TY - JOUR
T1 - Subtelomeric chromosome rearrangements in children with unexplained mental retardation in the population of the United Arab Emirates
AU - Al-Gazali, Lihadh
AU - Eapen, Valsa
AU - Raj, Aithala Guru
AU - Pramathan, Thachillath
PY - 2007/4
Y1 - 2007/4
N2 - Cryptic subtelomeric chromosome anomalies have been recognized as a significant cause of mental retardation. Their frequency in mental retardation in the UAE population has not been determined. The aim of the study was to determine the frequency of such abnormalities in mental retardation in the UAE population. We screened 105 patients with idiopathic mental retardation who had normal G banded karyotype at 400-500 band level and where no recognizable cause for their mental retardation was identified. We detected 3 (2.8%) subtelomeric deletion/ duplication that are considered disease causing. One of these anomalies was familial. We also found 2 (1.9%) small rearrangements which are probably not related to the patient's phenotype. Our results are comparable to other studies and suggest that telomere screening should be included in the list of investigation of mentally retarded children in the UAE.
AB - Cryptic subtelomeric chromosome anomalies have been recognized as a significant cause of mental retardation. Their frequency in mental retardation in the UAE population has not been determined. The aim of the study was to determine the frequency of such abnormalities in mental retardation in the UAE population. We screened 105 patients with idiopathic mental retardation who had normal G banded karyotype at 400-500 band level and where no recognizable cause for their mental retardation was identified. We detected 3 (2.8%) subtelomeric deletion/ duplication that are considered disease causing. One of these anomalies was familial. We also found 2 (1.9%) small rearrangements which are probably not related to the patient's phenotype. Our results are comparable to other studies and suggest that telomere screening should be included in the list of investigation of mentally retarded children in the UAE.
KW - Idiopathic mental retardation
KW - Subtelomeric chromosome abnormalities
KW - United Arab Emirates
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M3 - Article
AN - SCOPUS:34447132091
SN - 0250-6882
VL - 25
SP - 23
EP - 28
JO - New Emirates Medical Journal
JF - New Emirates Medical Journal
IS - 1
ER -