Hypotonic infant with Pallister–Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations

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dc.contributor.authorRawool, Anupen_US
dc.contributor.authorPriyanka Srivastavaen_US
dc.contributor.authorPhadke, Shubha R.en_US
dc.date.accessioned2020-11-18T10:21:08Z
dc.date.available2020-11-18T10:21:08Z
dc.date.issued2020-04
dc.description.abstractPallister–Killian syndrome (PKS) is a rare genetic developmental disorder characterized, by intellectual disability, seizures, streaks of hypo- or hyperpigmentation and characteristic dysmorphic features. PKS is characterized by the presence of cytogenetic abnormality in form of a supernumerary isochromosome 12p, in a tissue limited mosaicism. The isochromosome 12p is usually not detected in karyotype done from peripheral blood. Presence of patchy pigmentary skin lesions suggest the possibility of mosaicism and karyotype from skin is done which clinches the diagnosis. We describe an infant with severe hypotonia in whom trisomy 12p was detected by chromosomal microarray performed on peripheral blood. The karyotype from blood was normal and combining this information with three copies of 12p in microarray suggests the possibility of tetrasomy12p in mosaic form. The infant did not have any skin patchy pigmentary changes and malformations and hence, the diagnosis of PKS was not clinically suspected. Cytogenetic microarray is the first test for evaluation of cases with developmental delay and intellectual disability, PKS diagnosis may come as a surprise in unsuspected cases without characteristic skin pigmentary abnormality and malformations.en_US
dc.identifier.affiliationsDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow 226 014, Indiaen_US
dc.identifier.citationRawool Anup, Priyanka Srivastava, Phadke Shubha R.. Hypotonic infant with Pallister–Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations. Journal of Genetics. 2020 Apr; 99: 1-3en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215531
dc.languageenen_US
dc.publisherIndian Academy of Sciencesen_US
dc.relation.volume99en_US
dc.source.urihttps://doi.org/10.1007/s12041-020-1185-zen_US
dc.subjectPallister–Killian syndromeen_US
dc.subjecthypotoniaen_US
dc.subjectmosacismen_US
dc.subjectTetrasomy-12pen_US
dc.subjectcytogenetic microarrayen_US
dc.titleHypotonic infant with Pallister–Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformationsen_US
dc.typeJournal Articleen_US
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