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Chromosomal aberrations in children with suspected genetic disorders
(1997)Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation and Down syndrome. A total of 53 [38.7%] had an abnormal karyotype: trisomy 21 [36; 26.3%], trisomy 18 [3; 2.2%], trisomy 13 [1; 0.7%], partial autosomal aneuploidy [5; 3.6%], pericentric inversion of chromosome 9 [2; 1.5%], marker chromosome [2; 1.5%] and sex chromosome aberrations [4; 2.9%]. All of them showed phenotypic-cytogenetic ...
