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當12號染色體短臂（12p）的短臂四面體由於未知原因而發生時，帕利斯特-基利安馬賽克症候群（PKS）是一種染色體異常。

PKS具有以下特徵：

  • 低肌張力

  • 該綜合徵常見的面部特徵-前額高，鼻樑寬，眼之間寬

  • 出生時頭皮稀疏

  • 高弓形pa

  • 色素沉著不足

  • 額外的乳頭

  • 認知和發育延遲。儘管大多數PKS兒童都有這些延誤，但許多兒童只是輕度殘障。

  • 肌疝

PKS隨機發生，並且原因未知。人們認為世界上診斷出的PKS病例少於500例，但是，費城兒童醫院的醫生認為PKS的發病率要高得多！他們認為僅在美國就可能有多達2,000例病例。那麼為什麼這些數字沒有得到反映呢？可能有很多情況，但它們仍未得到診斷。這些未診斷病例的主要原因是測試方法。 PKS可以通過羊膜穿刺術在子宮內進行診斷，儘管有時甚至會產生假陰性。

出生後，最好通過頰塗片檢查或皮膚活檢來進行診斷。新的陣列血液測試可以非常準確。幾天后，體內的血細胞迅速再生，並且鑲嵌細胞離開血流，通過血液檢查作出的診斷尚無定論或假陰性。如果您有任何理由相信您的孩子可能患有綜合症，請進行口腔塗片檢查。

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM.Orphanet J Rare Dis. 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5.PMID: 38459574 Free PMC article. Review.

 

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

Izumi K, Ganetzky RD, Wertheim GBW, Skraban CM, Bedoukian EC, Wilkens A, Fincher C, Thomas NH, Ginsberg JP, Rheingold SR, Conlin LK, Deardorff MA.Mol Syndromol. 2023 Aug;14(4):303-309. doi: 10.1159/000530197. Epub 2023 May 5.PMID: 37589028 Free PMC article.

 

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, Krantz ID.Am J Med Genet A. 2018 Dec;176(12):2575-2586. doi: 10.1002/ajmg.a.40499. Epub 2018 Oct 5.PMID: 30289601 Review.

 

Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.

Fujiki K, Shirahige K, Kaur M, Deardorff MA, Conlin LK, Krantz ID, Izumi K.Mol Genet Genomic Med. 2016 Jan 20;4(3):257-61. doi: 10.1002/mgg3.200. eCollection 2016 May.PMID: 27247953 Free PMC article.

 

Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype.

Izumi K, Kellogg E, Fujiki K, Kaur M, Tilton RK, Noon S, Wilkens A, Shirahige K, Krantz ID.Am J Med Genet A. 2015 Jun;167(6):1268-74. doi: 10.1002/ajmg.a.36976. Epub 2015 Apr 21.PMID: 25900123

 

Pallister-Killian syndrome.

Izumi K, Krantz ID.Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):406-13. doi: 10.1002/ajmg.c.31423. Epub 2014 Nov 25.PMID: 25425112 Review.

 

Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.

Kaur M, Izumi K, Wilkens AB, Chatfield KC, Spinner NB, Conlin LK, Zhang Z, Krantz ID.PLoS One. 2014 Oct 16;9(10):e108853. doi: 10.1371/journal.pone.0108853. eCollection 2014.PMID: 25329894 Free PMC article.

 

12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.

Izumi K, Zhang Z, Kaur M, Krantz ID.Chromosome Res. 2014 Dec;22(4):453-61. doi: 10.1007/s10577-014-9431-y. Epub 2014 Jul 1.PMID: 24981202

 

Cardiac manifestations of Pallister-Killian syndrome.

Tilton RK, Wilkens A, Krantz ID, Izumi K.Am J Med Genet A. 2014 May;164A(5):1130-5. doi: 10.1002/ajmg.a.36413. Epub 2014 Feb 6.PMID: 24504854

 

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.

Conlin LK, Kaur M, Izumi K, Campbell L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID.Am J Med Genet A. 2012 Dec;158A(12):3046-53. doi: 10.1002/ajmg.a.35726. Epub 2012 Nov 20.PMID: 23169773

 

Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases.

Wilkens A, Liu H, Park K, Campbell LB, Jackson M, Kostanecka A, Pipan M, Izumi K, Pallister P, Krantz ID.Am J Med Genet A. 2012 Dec;158A(12):3002-17. doi: 10.1002/ajmg.a.35722. Epub 2012 Nov 20.PMID: 23169767

 

Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome.

Kostanecka A, Close LB, Izumi K, Krantz ID, Pipan M.Am J Med Genet A. 2012 Dec;158A(12):3018-25. doi: 10.1002/ajmg.a.35670. Epub 2012 Nov 20.PMID: 23169763

 

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. doi: 10.1002/ajmg.a.35500. Epub 2012 Nov 20.PMID: 23169682

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