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Title: Chromosomal aberrations in children with suspected genetic disorders
Authors: Mokhtar, M.M.
Issue Date: 1997
Language: English
Abstract: 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 heterogeneity. These findings suggest that cytogenetic analysis is useful in the investigation of children with genetic disorders of unknown origin to confirm clinical diagnosis and to allow for proper genetic counseling
Description: 114-122
Keywords: Child
Mental Retardation
Chromosome Aberrations
Subject: Hereditary Diseases
URI: http://www.who.int/iris/handle/10665/117095
ISSN: 1020-3397
Other Identifiers: http://applications.emro.who.int/emhj/0301/emhj_1997_3_1_114_122.pdf
Appears in Collections:EMRO Journal Articles (EMHJ)



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