Pregled bibliografske jedinice broj: 464335
Pallister Killian Syndrome: Unusual Significant Postnatal Overgrowth in a Girl with otherwise Typical Presentation
Pallister Killian Syndrome: Unusual Significant Postnatal Overgrowth in a Girl with otherwise Typical Presentation // Collegium antropologicum, 34 (2010), 1; 247-250 (međunarodna recenzija, članak, znanstveni)
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Naslov
Pallister Killian Syndrome: Unusual Significant Postnatal Overgrowth in a Girl with otherwise Typical Presentation
Autori
Huljev Frković, Sanda ; Tonković Đurišević, Ivana ; Lasan Trčić, Ružica ; Sarnavka, Vladimir ; Crkvenac Gornik, Kristina ; Mužinić, Dubravka ; Letica, Ljiljana ; Barić, Ivo ; Begović, Davor
Izvornik
Collegium antropologicum (0350-6134) 34
(2010), 1;
247-250
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
Pallister Killian sindrom; chromosome 12
Sažetak
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 19811, 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.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
108-0000000-0353 - Novi pristupi dijagnostici nasljednih bolesti (Begović, Davor, MZOS ) ( CroRIS)
108-1081870-1885 - Nasljedne metaboličke i ostale monogenske bolesti djece (Barić, Ivo, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
Profili:
Ljiljana Letica
(autor)
Kristina Crkvenac
(autor)
Ivo Barić
(autor)
Sanda Huljev Frković
(autor)
Davor Begović
(autor)
Ružica Lasan Trčić
(autor)
Ivana Tonković Đurišević
(autor)
Vladimir Sarnavka
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- SCI-EXP, SSCI i/ili A&HCI