The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe...

Fryns syndrome. Differential Diagnosis: McPherson et al. (1993) noted the phenotypic overlap between Fryns syndrome and the Pallister–Killian syndrome (601803)...

with birth defects, and more common than currently considered. Pallister–Killian syndrome (PKS) is a congenital disorder that includes an extremely wide...

Opsismodysplasia Optic atrophy Osteopathia striata with cranial sclerosis Pallister-Killian syndrome Parietal foramina Parietal foramina with cleidocranial dysplasia...

vein syndrome Overgrowth syndrome Overlap syndrome Pacak–Zhuang syndrome Pacemaker syndrome Painful bruising syndrome Pallister–Hall syndrome Pallister–Killian...

instead of the typical 46. Cat eye syndrome where partial tetrasomy of chromosome 22 is present Pallister-Killian syndrome (tetrasomy 12p) Tetrasomy 9p Tetrasomy...

patchy or asymmetric appearance. Examples of mosaicism syndromes include Pallister-Killian syndrome and Hypomelanosis of Ito. Development of cancer often...

susceptibility to sunburn and skin cancers. In rare cases such as Chédiak–Higashi syndrome, albinism may be associated with deficiencies in the transportation of...

which is associated with Pallister-Killian syndrome, and iso(18p), which is associated with intellectual disability and syndromic facies. Chromosome 15 has...

ceroid lipofuscinosis Noonan syndrome Nystagmus Ochoa syndrome Oculocerebrorenal syndrome Oligodactyly Pallister–Killian syndrome Pectus excavatum Pectus carinatum...