Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation [Pallister Killanov sindrom: neobičan postnatalni prekomjerni rast u djevojčice s inače tipičnom kliničkom prezentacijom]

Huljev Frković, Sanda and Tonković Đurišević, Ivana and Lasan Trčić, Ružica and Sarnavka, Vladimir and Crkvenac Gornik, Kristina and Mužinić, Dubravka and Letica, Ljiljana and Barić, Ivo and Begović, Davor (2010) Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation [Pallister Killanov sindrom: neobičan postnatalni prekomjerni rast u djevojčice s inače tipičnom kliničkom prezentacijom]. Collegium Antropologicum, 34 (1). pp. 247-50. ISSN 0350-6134

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Abstract

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 in 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.

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