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

We describe an infant with severe hypotonia in whom trisomy 12p was detected bychromosomal 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 caseswithout characteristic skin pigmentary abnormality and malformations.
PMID: 32482921 [PubMed - in process]

Source: Journal of Genetics - June 4, 2020 Category: Genetics & Stem Cells Authors: Rawool A, Srivastava P, Phadke SR Tags: J Genet Source Type: research