Cri du chat syndrome: A series of five cases.

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dc.contributor.authorDangare, Harsha M
dc.contributor.authorOommen, Samuel P
dc.contributor.authorSheth, Amisha N
dc.contributor.authorKoshy, Beena
dc.contributor.authorRoshan, Reeba
dc.contributor.authorThomas, Maya M
dc.contributor.authorDanda, Sumita
dc.contributor.authorSrivastava, Vivi M
dc.date.accessioned2013-03-15T10:37:59Z
dc.date.available2013-03-15T10:37:59Z
dc.date.issued2012-10
dc.description.abstractThe cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH) analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome.en_US
dc.identifier.citationDangare Harsha M, Oommen Samuel P, Sheth Amisha N, Koshy Beena, Roshan Reeba, Thomas Maya M, Danda Sumita, Srivastava Vivi M. Cri du chat syndrome: A series of five cases. Indian Journal of Pathology & Microbiology. 2012 Oct-Dec 55(4): 501-505.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/145645
dc.language.isoenen_US
dc.source.urihttps://www.ijpmonline.org/article.asp?issn=0377-4929;year=2012;volume=55;issue=4;spage=501;epage=505;aulast=Dangareen_US
dc.subjectCri du chat syndromeen_US
dc.subjectcytogeneticsen_US
dc.subjectdeletion 5pen_US
dc.subjectdevelopmental delayen_US
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshChromosome Deletion
dc.subject.meshCri-du-Chat Syndrome --diagnosis
dc.subject.meshCri-du-Chat Syndrome --genetics
dc.subject.meshCytogenetic Analysis --methods
dc.subject.meshHumans
dc.subject.meshIn Situ Hybridization, Fluorescence --methods
dc.titleCri du chat syndrome: A series of five cases.en_US
dc.typeArticleen_US
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