Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.gene.2012.12.082
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dc.titleDe novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability
dc.contributor.authorBrett, M.S.
dc.contributor.authorNg, I.S.L.
dc.contributor.authorLim, E.C.P.
dc.contributor.authorYong, M.H.
dc.contributor.authorLi, Z.
dc.contributor.authorLai, A.
dc.contributor.authorTan, E.-C.
dc.date.accessioned2014-11-26T07:44:00Z
dc.date.available2014-11-26T07:44:00Z
dc.date.issued2013-03-15
dc.identifier.citationBrett, M.S., Ng, I.S.L., Lim, E.C.P., Yong, M.H., Li, Z., Lai, A., Tan, E.-C. (2013-03-15). De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability. Gene 517 (1) : 82-88. ScholarBank@NUS Repository. https://doi.org/10.1016/j.gene.2012.12.082
dc.identifier.issn03781119
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/109282
dc.description.abstractWe describe a boy with a de novo deletion of 15.67. Mb spanning 3q22.1q24. He has bilateral micropthalmia, ptosis, cleft palate, global developmental delay and brain, skeletal and cardiac abnormalities. In addition, he has bilateral inguinal hernia and his right kidney is absent. We compare his phenotype with seven other patients with overlapping and molecularly defined interstitial 3q deletions. This patient has some phenotypic features that are not shared by the other patients. More cases with smaller deletions defined by high resolution aCGH will enable better genotype-phenotype correlations and prioritizing of candidate genes for the identification of pathways and disease mechanisms. © 2012 Elsevier B.V.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1016/j.gene.2012.12.082
dc.sourceScopus
dc.subject3q deletion
dc.subjectArray CGH
dc.subjectCleft palate
dc.subjectGrowth retardation
dc.subjectIntellectual disability
dc.typeArticle
dc.contributor.departmentPSYCHOLOGICAL MEDICINE
dc.description.doi10.1016/j.gene.2012.12.082
dc.description.sourcetitleGene
dc.description.volume517
dc.description.issue1
dc.description.page82-88
dc.description.codenGENED
dc.identifier.isiut000315537800011
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