A de novo marker chromosome 15 in a child with isolated developmental delay

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dc.contributor.authorKumar, Madhavan Jeevanen_US
dc.contributor.authorGowrishankar, Kalpanaen_US
dc.contributor.authorHemagowri, Venkatasubramanianen_US
dc.contributor.authorKadandale, Jayaramaen_US
dc.date.accessioned2020-11-18T10:21:04Z
dc.date.available2020-11-18T10:21:04Z
dc.date.issued2020-09
dc.description.abstractWe report a rare case of a 14-month-old male child who was referred for developmental delay. Clinical examination revealed a hypotonic infant with speech delay and no dysmorphic features. The banding cytogenetics revealed a small supernumerary marker chromosome. Upon silver staining, the marker showed the presence of satellite regions on either ends. Further, analysis using fluorescence in situ hybridization on marker chromosome revealed its origin from chromosome 15.en_US
dc.identifier.affiliationsDepartment of Genetic Engineering, SRM Institute of Science and Technology, Kattankulathur 603 203, Indiaen_US
dc.identifier.affiliationsDepartment of Medical Genetics, CHILDS Trust Medical Research Foundation (CTMRF), Kanchi Kamakoti CHILDS Trust Hospital, Chennai 600 034, Indiaen_US
dc.identifier.affiliationsDepartment of Medical Genetics, CHILDS Trust Medical Research Foundation (CTMRF), Kanchi Kamakoti CHILDS Trust Hospital, Chennai 600 034, Indiaen_US
dc.identifier.affiliationsDepartment of Molecular Cytogenetics, Centre for Human Genetics, Bengaluru 560 100, Indiaen_US
dc.identifier.citationKumar Madhavan Jeevan, Gowrishankar Kalpana, Hemagowri Venkatasubramanian, Kadandale Jayarama. A de novo marker chromosome 15 in a child with isolated developmental delay. Journal of Genetics. 2020 Sep; 99: 1-4en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215488
dc.languageenen_US
dc.publisherIndian Academy of Sciencesen_US
dc.relation.volume99en_US
dc.source.urihttps://doi.org/10.1007/s12041-020-01231-9en_US
dc.subjectcytogeneticsen_US
dc.subjectsatellite chromosomeen_US
dc.subjectfluorescence in situ hybridizationen_US
dc.subjectmarker chromosomeen_US
dc.subjectuniparental disomyen_US
dc.titleA de novo marker chromosome 15 in a child with isolated developmental delayen_US
dc.typeJournal Articleen_US
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