SOME AIDS IN THE DIAGNOSIS OF GENETIC DISORDERS.
Disorders of genetic origin may cause morphological or metabolic disturbances. A number of recognized screening procedures, e.g. palm printing, buccal smears and paper chromatography, are useful in the recognition of these disorders.Additional procedures for more detailed analysis of the genetic defects, e.g. aminoacid analysis, gas chromatography and chromosome analysis, have been developed and are employed in specialized centres.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors; D000596:Amino Acids; D002648:Child; D002845:Chromatography; D002854:Chromatography, Paper; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003933:Diagnosis; D005826:Genetics, Medical; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney; D008403:Mass Screening; D008661:Metabolism, Inborn Errors; D000608:Renal Aminoacidurias; D012728:Sex Chromatin
D000596:Amino Acids
ADOLESCENCE; AMINOACIDURIA, RENAL; CHILD; CHROMATOGRAPHY; CHROMOSOME ABNORMALITIES; DIAGNOSIS; GENETICS, HUMAN; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; SEX CHROMATIN