1.Genetics of cleft lip and palate: A review
Zainul Ahmad Rajion ; Zilfalil Alwi
Malaysian Journal of Medical Sciences 2007;14(1):4-9
Orofacial clefts, particularly non-syndromic cleft lip with or without cleft palate (CL/P) are the most common craniofacial deformities, affecting one in every 700 to 1000 newborns worldwide. Numerous efforts have been made to understand the etiology of CL/P so as to predict its occurrence and to prevent it from occurring in the future. In the recent years, advances in genetics and molecular biology have begun to reveal the basis of craniofacial development. Various genetic approaches, including genome-wide and candidate gene association studies as well as linkage analysis, have been undertaken to identify aetiologic factors, but results have often been inconclusive or contradictory. These results may support the presence of aetiologic heterogeneity among populations and the presence of multiple genes involved in the aetiology of CL/P. Despite these difficulties, several different genes have been implicated in harbouring genes that contribute to the aetiology of CL/P. In conclusion, the genetic basis of CL/P is still controversial because of genetic complexity of clefting.
Chloride Ion
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upper case pea
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Genetic
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Cleft Lip
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Palate
2.Cytogenetics: Past, Present And Future
Thirumulu Ponnuraj Kannan ; Zilfalil Bin Alwi
Malaysian Journal of Medical Sciences 2009;16(2):4-9
Fifty years have elapsed since the discovery of the number of human chromosomes in 1956. Newer
techniques have been developed since then, ranging from the initial conventional banding techniques
to the currently used molecular array comparative genomic hybridisation. With a combination of
these conventional and molecular techniques, cytogenetics has become an indispensable tool for the
diagnosis of various genetic disorders, paving the way for possible treatment and management. This
paper traces the history and evolution of cytogenetics leading up to the current state of technology.
3.Clinical and genetic analysis of long QT syndrome in two Malay children
Abdul Rahim Wong ; Zilfalil Bin Alwi ; Zahurul A. Bhuiyan
The Medical Journal of Malaysia 2019;74(4):341-343
Long QT syndrome (LQTS) is predominantly a genetic
cardiac arrhythmia disorder. We report here our study on
long QT syndrome from two children from Kelantan,
Malaysia. Clinical and genetic findings of these two
unrelated Malay children with LQTS is discussed. We found
a Long QT, type 1 causal mutation, p.Ile567Thr in the KCNQ1
gene in the first child. A pathogenic mutation could not be
detected in the second child, explaining the heterogeneity of
this disease.