@article{Shuib201777,
title = {Duplication 17p11.2 (Potocki-Lupski syndrome) in a child with developmental delay},
author = {S Shuib and N N Saaid and Z Zakaria and J Ismail and Z Abdul Latiff},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85037028880&partnerID=40&md5=624b87d1e9ebac2d1bf66b4d30c0f6e9},
issn = {01268635},
year = {2017},
date = {2017-01-01},
journal = {Malaysian Journal of Pathology},
volume = {39},
number = {1},
pages = {77-81},
publisher = {Malaysian Society of Pathologists},
abstract = {Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11.2. However, there are a few genes which are considered as candidates for PTLS which include RAI1, SREBF1, DRG2, LLGL1, SHMT1 and ZFP179. In this report, we investigated a case of a 3-year-old girl who has developmental delay. Her chromosome analysis showed a normal karyotype (46,XX). Analysis using array CGH (4X44 K, Agilent USA) identified an ~4.2 Mb de novo duplication in chromosome 17p11.2. The result was confirmed by fluorescence in situ hybridization (FISH) using probes in the critical PTLS region. This report demonstrates the importance of microarray and FISH in the diagnosis of PTLS. © 2017, Malaysian Society of Pathologists. All rights reserved.},
note = {cited By 0},
keywords = {Abnormalities, Agarose, Article, Autism, Autism Spectrum Disorders, Blood Culture, Case Report, Children, Chromosome 17, Chromosome Analysis, Chromosome Disorder, Chromosome Duplication, Chromosomes, Clinical Article, Comparative Genomic Hybridization, Developmental Delay, Electrophoresis, Female, Fluorescence, Fluorescence in Situ Hybridization, Gene, Gene Identification, Genetics, Genomic DNA, Human, In Situ Hybridization, Lymphocyte Culture, Microarray Analysis, Multiple, Multiple Malformation Syndrome, Pair 17, Phenotype, Potocki Lupski Syndrome, Preschool, Preschool Child, Procedures, RAI1 Gene, Ultraviolet Spectrophotometry},
pubstate = {published},
tppubtype = {article}
}

@article{Kuan20101022,
title = {Development of an effective assessment and training support system for cognitive ability for special children},
author = {T M Kuan and E Supriyanto and Y K Jiar and Y E Han},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-77958107712&partnerID=40&md5=2ec5c3ecbb54c2ebde0e55834dd2ae56},
issn = {11092750},
year = {2010},
date = {2010-01-01},
journal = {WSEAS Transactions on Computers},
volume = {9},
number = {9},
pages = {1022-1031},
abstract = {In definition, special children include children who are having Down syndrome, autism, global delay, epilepsy, slow learner and others. In this study, the special children are focused on children with Down syndrome. Down syndrome occurs due to an extra copy of chromosome 21 in the children's chromosome. Early intervention Program (EIP) is a systematic program with therapy, exercises, and activities which designed to help children especially special children. Cognitive development is the construction of thought processes, which is one of the most important skills that have to be developed for Down syndrome children in order to lead a normal life. This support system is focused mainly to help them improving their logical thinking and memory skills. This cognitive assessment and training support system utilizes the radio frequency identification (RFID) technology implemented in C Sharp programming language. The completed system was then tested and feedback was obtained from parents or trainers of Down syndrome children. The results show that the system can generate results in graphical form stably and training for improving the cognitive ability of the children is reliable based on global recognized curriculum. In conclusion, the system can be used in order to help trainers or parents to improve the cognitive ability of children with Down syndrome.},
note = {cited By 0},
keywords = {Assessment and Training, Chromosomes, Cognitive Ability, Curricula, Early Intervention, Radio Frequency Identification (RFID), RFID, Special Children, Support System},
pubstate = {published},
tppubtype = {article}
}