The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe...
17 KB (1,946 words) - 19:55, 23 August 2024
Fryns syndrome. Differential Diagnosis: McPherson et al. (1993) noted the phenotypic overlap between Fryns syndrome and the Pallister–Killian syndrome (601803)...
25 KB (3,080 words) - 06:59, 15 April 2024
with birth defects, and more common than currently considered. Pallister–Killian syndrome (PKS) is a congenital disorder that includes an extremely wide...
56 KB (7,172 words) - 11:08, 18 November 2023
Macrocephaly (redirect from Learman syndrome)
Opsismodysplasia Optic atrophy Osteopathia striata with cranial sclerosis Pallister-Killian syndrome Parietal foramina Parietal foramina with cleidocranial dysplasia...
18 KB (1,722 words) - 07:10, 15 April 2024
vein syndrome Overgrowth syndrome Overlap syndrome Pacak–Zhuang syndrome Pacemaker syndrome Painful bruising syndrome Pallister–Hall syndrome Pallister–Killian...
42 KB (4,068 words) - 22:25, 3 September 2024
instead of the typical 46. Cat eye syndrome where partial tetrasomy of chromosome 22 is present Pallister-Killian syndrome (tetrasomy 12p) Tetrasomy 9p Tetrasomy...
2 KB (105 words) - 20:07, 26 March 2021
Nondisjunction (redirect from Instability mitotic non disjunction syndrome)
patchy or asymmetric appearance. Examples of mosaicism syndromes include Pallister-Killian syndrome and Hypomelanosis of Ito. Development of cancer often...
25 KB (2,857 words) - 18:11, 18 May 2024
susceptibility to sunburn and skin cancers. In rare cases such as Chédiak–Higashi syndrome, albinism may be associated with deficiencies in the transportation of...
39 KB (3,838 words) - 18:43, 1 September 2024
which is associated with Pallister-Killian syndrome, and iso(18p), which is associated with intellectual disability and syndromic facies. Chromosome 15 has...
4 KB (465 words) - 21:29, 27 September 2023
ceroid lipofuscinosis Noonan syndrome Nystagmus Ochoa syndrome Oculocerebrorenal syndrome Oligodactyly Pallister–Killian syndrome Pectus excavatum Pectus carinatum...
4 KB (355 words) - 01:24, 22 July 2023