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O nas

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Pallister-Killianov mozaični sindrom ali PKS je nenormalnost kromosoma, kadar se brez znanega razloga pojavi tetrasomija kratkega kraka kromosoma 12 (12p).

PKS ima naslednje značilnosti:

U

  • nizek mišični tonus

  • poteze obraza, ki so skupne sindromu visoko čelo, širok nosni most, širok prostor med očmi

  • redki lasje lasišča ob rojstvu

  • visoko, obokano nebo

  • hipopigmentacija

  • dodatne bradavičke

  • kognitivne in razvojne zamude. Čeprav ima večina otrok PKS te zamude, je veliko otrok le blago prizadeto.

  • diafragmatske kile

PKS se zgodi naključno in brez znanega razloga. Menijo, da je na svetu manj kot 500 diagnosticiranih primerov PKS, vendar zdravniki v otroški bolnišnici v Filadelfiji verjamejo, da je incidenca PKS veliko večja! Menijo, da je lahko samo v Združenih državah kar 2000 primerov. Zakaj se torej te številke ne odražajo? Verjetno je, da je lahko toliko primerov, vendar jih ne diagnosticirajo. Glavni vzrok teh nediagnosticiranih primerov je metoda testiranja. PKS je mogoče diagnosticirati v maternici z amniocentezo, čeprav občasno tudi to povzroči lažno negativno.

Po rojstvu je diagnozo najbolje postaviti z ustnim brisom ali biopsijo kože. Nova nizka preiskava krvi je lahko zelo natančna. Krvne celice v telesu se hitro obnovijo, mozaične celice pa po nekaj dneh zapustijo krvni obtok in s pomočjo krvnega obtoka postavijo diagnozo nedokončno ali lažno negativno. Prosite za bukalni bris, če imate kakršen koli razlog, da verjamete, da ima vaš otrok lastnosti sindroma.

PKS has the following characteristics:​

  • low muscle tone

  • sparse scalp hair at birth

  • high, arched palate

  • hypopigmentation

  • diaphragmatic hernias

  • extra nipples

  • facial features that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes

  • cognitive and developmental delays. Although most PKS children have these delays, many children are only mildly handicapped.​

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PKS Kids Scan

​PKS happens randomly and for no known reason. It is thought that there are fewer than 500 diagnosed cases of PKS in the world, however, doctors at Children's Hospital in Philadelphia believe that the incidence of PKS is much higher! They feel there may be as many as 2,000 cases in the United States alone. So why aren't these numbers reflected? It is likely that there may be this many cases, but they are going undiagnosed. The main cause of these undiagnosed cases is the method of testing. PKS can be diagnosed in utero via amniocentesis, although occasionally, even this has produced a false negative.

 

After birth, diagnosis is best made by a buccal smear or a skin biopsy.  New array blood testing can be very accurate. The blood cells in the body quickly regenerate and the mosaic cells leave the bloodstream after just a few days, making a diagnosis via bloodwork inconclusive or falsely negative. Ask for a buccal smear if you have any reason to believe your child may have the traits of a syndrome.

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