ABSTRACT
OBJECTIVE@#To discuss the advantages and technical limitations of various molecular genetic techniques in the diagnosis of two infants featuring all-round developmental retardation.@*METHODS@#The two patients were initially screened by using chromosomal microarray analysis (CMA). For patient 1, his parents were also subjected to CMA analysis, and the data was analyzed by using ChAS and UPD-tool software. For patient 2, methylation-specific PCR (MS-PCR) was carried out.@*RESULTS@#Patient 1 was diagnosed with maternal uniparental disomy (UPD) type Prader-Willi syndrome (PWS) by CMA and UPD-tool family analysis. His chromosomes 15 were of maternal UPD with homology/heterology. Patient 2 was diagnosed with deletion type PWS by combined CMA and MS-PCR.@*CONCLUSION@#Correct selection of laboratory methods based on the advantages and limitations of various molecular techniques can help with diagnosis of genomic imprinting disorders and enable better treatment and prognosis through early intervention.
ABSTRACT
@#ObjectiveTo explore temperament characteristics of children with cerebral palsy.Methods364 children with cerebral palsy, ages from four months to seven years, were tested with modified Carey\'s Children Temperament Questionnaires. Temperament characteristics of children with different types of cerebral palsy, able and unable walk independently were compared.ResultsChildren with cerebral palsy had negative temperament including less active, low persistence, high distractibility and negative mood. Approach was different between children with diplegia and athtosis. There were no different temperaments among children with different lever of IQ. Children they could not walk independently had an obvious negative temperament.ConclusionChildren with cerebral palsy have significantly negative temperament.