These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis. Libotte F; Bizzoco D; Gabrielli I; Mesoraca A; Cignini P; Vitale SG; Marilli I; Gulino FA; Rapisarda AM; Giorlandino C Taiwan J Obstet Gynecol; 2016 Dec; 55(6):863-866. PubMed ID: 28040135 [TBL] [Abstract][Full Text] [Related]
4. Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism. Toydemir RM; Panza E; Longhurst MC; South ST; Rope AF Mol Syndromol; 2020 Jul; 11(3):125-129. PubMed ID: 32903844 [TBL] [Abstract][Full Text] [Related]
5. Pallister-Killian syndrome. Izumi K; Krantz ID Am J Med Genet C Semin Med Genet; 2014 Dec; 166C(4):406-13. PubMed ID: 25425112 [TBL] [Abstract][Full Text] [Related]
6. Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. Izumi K; Conlin LK; Berrodin D; Fincher C; Wilkens A; Haldeman-Englert C; Saitta SC; Zackai EH; Spinner NB; Krantz ID Am J Med Genet A; 2012 Dec; 158A(12):3033-45. PubMed ID: 23169682 [TBL] [Abstract][Full Text] [Related]
7. Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples. Wang T; Ren C; Chen D; Lu J; Guo L; Zheng L; Liu Y; Chen H Mol Cytogenet; 2019; 12():39. PubMed ID: 31497069 [TBL] [Abstract][Full Text] [Related]
8. Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review. Arghir A; Popescu R; Resmerita I; Budisteanu M; Butnariu LI; Gorduza EV; Gramescu M; Panzaru MC; Papuc SM; Sireteanu A; Tutulan-Cunita A; Rusu C Genes (Basel); 2021 May; 12(6):. PubMed ID: 34073526 [TBL] [Abstract][Full Text] [Related]
9. Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature. Alqahtani AS; Putoux A; Bonnet Dupeyron MN; Carneiro M; Lion-Francois L; Rossi M; Tevissen H; Schluth Bolard C; Labalme A; Lesca G; Till M; Edery P; Sanlaville D Mol Genet Genomic Med; 2019 Oct; 7(10):e00939. PubMed ID: 31454185 [TBL] [Abstract][Full Text] [Related]
10. Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations. Rawool A; Srivastava P; Phadke SR J Genet; 2020; 99():. PubMed ID: 32482921 [TBL] [Abstract][Full Text] [Related]
11. Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts. Horn D; Majewski F; Hildebrandt B; Körner H J Med Genet; 1995 Jan; 32(1):68-71. PubMed ID: 7897632 [TBL] [Abstract][Full Text] [Related]
12. A rapid and noninvasive method for detecting tissue-limited mosaicism: detection of i(12)(p10) in buccal smear from a child with Pallister-Killian syndrome. Velagaleti GV; Tapper JK; Rampy BA; Zhang S; Hawkins JC; Lockhart LH Genet Test; 2003; 7(3):219-23. PubMed ID: 14641998 [TBL] [Abstract][Full Text] [Related]
14. Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome. Alesi V; Dentici ML; Restaldi F; Orlando V; Liambo MT; Calacci C; Capolino R; Digilio MC; El Hachem M; Novelli A; Diociaiuti A; Dallapiccola B Am J Med Genet A; 2017 Jul; 173(7):1943-1946. PubMed ID: 28489314 [TBL] [Abstract][Full Text] [Related]
15. Prenatal diagnosis of Pallister-Killian syndrome and literature review. Wu X; Xie X; Su L; Lin N; Liang B; Guo N; Chen Q; Xu L; Huang H J Cell Mol Med; 2021 Sep; 25(18):8929-8935. PubMed ID: 34405543 [TBL] [Abstract][Full Text] [Related]
16. Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear. Sukarova-Angelovska E; Kocova M; Ilieva G; Angelkova N; Kochova E Mol Cytogenet; 2016; 9():38. PubMed ID: 27148406 [TBL] [Abstract][Full Text] [Related]