prikaz prve stranice dokumenta Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation
  Download
PDF 126.24 KB
Scientific paper - Case study
Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation
Collegium Antropologicum, 34 (2010), 1; 247-250. urn:nbn:hr:105:393467
Huljev Frković, Sanda; Tonković Đurišević, Ivana; Lasan Trčić, Ružica; Sarnavka, Vladimir; Crkvenac Gornik, Kristina; Mužinić, Dubravka; Letica, Ljiljana; Barić, Ivo; Begović, Davor

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

Cite this document

Huljev Frković, S., Tonković Đurišević, I., Lasan Trčić, R., Sarnavka, V., Crkvenac Gornik, K., Mužinić, D. ... Begović, D. (2010). Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation. Collegium Antropologicum, 34. (1), 247-250. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:393467

Huljev Frković, Sanda, et al. "Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation." Collegium Antropologicum, vol. 34, no. 1, 2010, pp. 247-250. https://urn.nsk.hr/urn:nbn:hr:105:393467

Huljev Frković, Sanda, Ivana Tonković Đurišević, Ružica Lasan Trčić, Vladimir Sarnavka, Kristina Crkvenac Gornik, Dubravka Mužinić, Ljiljana Letica, Ivo Barić and Davor Begović. "Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation." Collegium Antropologicum 34, no. 1 (2010): 247-250. https://urn.nsk.hr/urn:nbn:hr:105:393467

Huljev Frković, S., et al. (2010) 'Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation', Collegium Antropologicum, 34(1), pp. 247-250. Available at: https://urn.nsk.hr/urn:nbn:hr:105:393467 (Accessed 29 April 2024)

Huljev Frković S, Tonković Đurišević I, Lasan Trčić R, Sarnavka V, Crkvenac Gornik K, Mužinić D, and sur.. Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation. Collegium Antropologicum [Internet]. 2010 March [cited 2024 April 29];34(1):247-250. Available at: https://urn.nsk.hr/urn:nbn:hr:105:393467

S. Huljev Frković, et al., "Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation", Collegium Antropologicum, vol. 34, no. 1, pp. 247-250, March 2010. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:393467. [Accessed: 29 April 2024]

Metadata
Title (english)Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation
Title (croatian)Pallister Killanov sindrom: neobičan postnatalni prekomjerni rast u djevojčice s inače tipičnom kliničkom prezentacijom
AuthorSanda Huljev Frković
AuthorIvana Tonković Đurišević
AuthorRužica Lasan Trčić
AuthorVladimir Sarnavka
AuthorKristina Crkvenac Gornik
AuthorDubravka Mužinić
AuthorLjiljana Letica
AuthorIvo Barić
AuthorDavor Begović
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i(12)(p10) chromosome in fibroblasts. The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures and progressive psychomotor developmental delay. It was first described independently by Pallister in 1977 and by Killian and Teschler-Nikola in 1981 1,2. We report a case of 21 month old girl with PKS and significant overgrowth. Cytogenetic analysis was performed using the GTG banding technique. The karyotype of cultured lymphocytes was normal. The karyotype from skin fibroblasts was established as mosaic tetrasomy of 12p 47,XX,+i(12) (p10)/46,XX. The origin of the extra marker chromosome was determinated by fluorescence in situ hybridization with chromosome 12 specific DNA probes confirming that supernumerary marker is chromosome i(12p) in 68% of cells. Despite the excessive postnatal growth we found low serum growth hormone levels and reduced response to pharmacological stimulation test. This is also the first report of a postnatal patient in our country.
Abstract (croatian)
Pallister Killian sindrom (PKS) je rijedak genetski poremećaj uzrokovan tetrasomijom kratkog kraka kromosoma 12, koji se obično otkriva u mozaičkoj raspodjeli prekobrojnog i(12)(p10) kromosoma u fibroblastima. Sindrom se prezentira prepoznatljivim fenotipskim karakteristikama kao što su pigmentirane kožne promjene, grube crte lica, visoko čelo, rijetka kosa prednjeg dijela vlasišta, hipertelorizam, konvulzije, te progresivno psihomotorno zaostajanje. Prvi put je opisan neovisno od strane Pallistera 1977. godine, te Killiana i Teschler-Nikole 1981. godine 1,2. Prikazujemo slučaj dvadesetjedno mjesečne djevojčice sa PKS-om i značajnim prekomjernim rastom. Citogenetska analiza je učinjena korištenjem tehnike GTG pruganja. Kariotip kultiviranih limfocita je bio uredan. U kariotipu kožnih fibroblasta nađena je mozaična tetrasomija 12p: 47,XX,+i(12)(p10)/46,XX. Porijeklo prekobrojnog marker kromosoma utvrđeno je fluorescentnom in situ hibridizacijom sa kromosom 12 specifičnim DNA probama. Prekobrojni marker kromosom i(12p) nađen je u 68% stanica. Usprkos ubrzanom postnatalnom rastu, utvrdili smo niske serumske razine hormona rasta uz izostanak očekivanog odgovora tijekom farmakološkog testa stimulacije. Ovo je također prikaz prvog rođenog bolesnika u našoj zemlji.
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCollegium Antropologicum
Numberingvol. 34, no. 1, pp. 247-250
p-ISSN0350-6134
URN:NBNurn:nbn:hr:105:393467
Publication2010-03
Document URLhttps://hrcak.srce.hr/51272
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 11:43:54