Establishing a relationship between clinical features and one specific type of chromosome abnormality
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Correspondence Establishing a relationship between clinical features and one specific type of chromosome abnormality e read the article by Thillainathan and colleagues published in this Journal. The authors provided descriptive analysis of children in Sri Lankan who underwent cytogenetic analysis for suspected chromosomal disorders. They compared their results with that in Caucasian and other Asian populations. This is an important document in that the authors added their data of Sri Lanka to the international pool of these types of surveys. [2,3] However, further analyses may benefit the impact of the current study. The authors presented the cytogenetic outcomes in detail, but did not make an attempt to establish any possible linkage between clinical features and one specific type of chromosome abnormality. We know that signs and symptoms at presentation of some disorders may be non-specific. The clinicians and researchers try to summarize a relationship between some clinical symptoms and a specific chromosomal abnormality, just like some syndromes, i.e. a group of phenotypic symptoms in 22q11 micro-deletion syndrome. This database will benefit the clinical diagnosis greatly, and help the medical professionals to decide whether cytogenetic analysis is, or is not necessary for certain clinical features. In addition, the researchers can do more work on the genotype and phenotype for a specific type of chromosome abnormality, and also add more evidences to the database. Therefore, this is a valuable topic requiring further researches to illustrate the possible associations, and we highly recommend the authors to do deeper analysis focusing on it. One of the limitation of the article is that the authors did not mention that if the parents of the patients confirmed with chromosomal abnormalities participated into the analysis. For many chromosome abnormalities, parents may be carriers. It was also interesting if the parents had similar clinical manifestations to the children's, with which we could know more about the relationship of genotype and phenotype for one certain abnormality, and confirm this association. We think the present analysis reflects the influence of experience of clinicians on making clinical diagnosis of suspected chromosome disorders.
World J Pediatr, Online First, January 2016 . www.wjpch.com
Xiu-Juan Yang Department of Pediatrics, The First Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, China Email: [email protected]
References 1 Thillainathan S, Sirisena ND, Kariyawasam KW, Jayasekara RW, Dissanayake VH. Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children. World J Pediatr 2015;11:374-379. 2 Mao S, Sun L, Tu M, Zou C, Wang X. Cytogenetic and Clinical Features in Children Suspected With Congenital Abnormalities in 1 Medical Center of Zhejiang Province From 2011 to 2014. Medicine 2015;94:e1857. 3 Al-Alawi I, Goud TM, Al-Harasi S, Rajab A. Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman.
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