An Indian boy with additional features in Pallister-Killian syndrome.
Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic genetic disorder characterized by pigmentary skin changes, distinctive dysmorphology, developmental delay, and mosaicism for tetrasomy of chromosome 12p. The authors report a case of PKS in a 2-y-old boy. He had pigmentary skin changes, characteristic facial features, developmental delay and hearing loss. He had sacral and post-auricular pits in addition, which has not yet been reported. A diagnosis of PKS was suspected on the basis of the patient's clinical features. Skin fibroblast culture was done which showed mosaic tetrasomy of isochromosome 12p consistent with Pallister-Killian syndrome. This case highlights the importance of dysmorphology as a diagnostic tool for recognition and accurate genetic counseling in genetic syndromes.
Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, 632004, India.
Krati
K
Shah
Renu
R
George
Evangelynn Singh
ES
Balla
Samuel P
SP
Oommen
Caroline S
CS
Padankatti
Vivi M
VM
Srivastava
Sumita
S
Danda
D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D006801:Humans; D007194:India; D018404:Isochromosomes; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D058670:Tetrasomy