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Pregled bibliografske jedinice broj: 464335

Pallister Killian Syndrome: Unusual Significant Postnatal Overgrowth in a Girl with otherwise Typical Presentation


Huljev Frković, Sanda; Tonković Đurišević, Ivana; Lasan Trčić, Ružica; Sarnavka, Vladimir; Crkvenac Gornik, Kristina; Mužinić, Dubravka; Letica, Ljiljana; Barić, Ivo; Begović, Davor
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

Poveznice na cjeloviti tekst rada:

Hrčak

Citiraj ovu publikaciju:

Huljev Frković, Sanda; Tonković Đurišević, Ivana; Lasan Trčić, Ružica; Sarnavka, Vladimir; Crkvenac Gornik, Kristina; Mužinić, Dubravka; Letica, Ljiljana; Barić, Ivo; Begović, Davor
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)
Huljev Frković, S., Tonković Đurišević, I., Lasan Trčić, R., Sarnavka, V., Crkvenac Gornik, K., Mužinić, D., Letica, L., Barić, I. & Begović, D. (2010) Pallister Killian Syndrome: Unusual Significant Postnatal Overgrowth in a Girl with otherwise Typical Presentation. Collegium antropologicum, 34 (1), 247-250.
@article{article, author = {Huljev Frkovi\'{c}, Sanda and Tonkovi\'{c} \DJuri\v{s}evi\'{c}, Ivana and Lasan Tr\v{c}i\'{c}, Ru\v{z}ica and Sarnavka, Vladimir and Crkvenac Gornik, Kristina and Mu\v{z}ini\'{c}, Dubravka and Letica, Ljiljana and Bari\'{c}, Ivo and Begovi\'{c}, Davor}, year = {2010}, pages = {247-250}, keywords = {Pallister Killian sindrom, chromosome 12}, journal = {Collegium antropologicum}, volume = {34}, number = {1}, issn = {0350-6134}, title = {Pallister Killian Syndrome: Unusual Significant Postnatal Overgrowth in a Girl with otherwise Typical Presentation}, keyword = {Pallister Killian sindrom, chromosome 12} }
@article{article, author = {Huljev Frkovi\'{c}, Sanda and Tonkovi\'{c} \DJuri\v{s}evi\'{c}, Ivana and Lasan Tr\v{c}i\'{c}, Ru\v{z}ica and Sarnavka, Vladimir and Crkvenac Gornik, Kristina and Mu\v{z}ini\'{c}, Dubravka and Letica, Ljiljana and Bari\'{c}, Ivo and Begovi\'{c}, Davor}, year = {2010}, pages = {247-250}, keywords = {Pallister Killian sindrom, chromosome 12}, journal = {Collegium antropologicum}, volume = {34}, number = {1}, issn = {0350-6134}, title = {Pallister Killian Syndrome: Unusual Significant Postnatal Overgrowth in a Girl with otherwise Typical Presentation}, keyword = {Pallister Killian sindrom, chromosome 12} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • SCI-EXP, SSCI i/ili A&HCI





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