Fúinn
Is mínormáltacht crómasóim é Siondróm Mosaic Pallister-Killian nó PKS nuair a tharlaíonn teitreamaíocht de lámh ghearr chrómasóim 12 (12p) ar chúis ar bith.
Tá na tréithe seo a leanas ag PKS:
ton muscle íseal
gnéithe facial atá coitianta leis an forehead siondróm-ard, droichead nasal leathan, spás leathan idir na súile
gruaig tanaí scalp ag breith
carball scoilte ard
hypopigmentation
siní breise
moilleanna cognaíocha agus forbartha. Cé go mbíonn an mhoill seo ar fhormhór na leanaí PKS, níl ach go leor daoine faoi mhíbhuntáiste.
hernias diaphragmatic
Tarlaíonn PKS go randamach agus gan aon chúis ar eolas. Ceaptar go bhfuil níos lú ná 500 cás diagnóisithe de PKS ar domhan, áfach, creideann dochtúirí in Ospidéal na Leanaí i Philadelphia go bhfuil minicíocht PKS i bhfad níos airde! Braitheann siad go bhféadfadh an oiread agus 2,000 cás a bheith sna Stáit Aontaithe amháin. Mar sin cén fáth nach léirítear na huimhreacha seo? Is dóigh go bhféadfadh an oiread sin cásanna a bheith ann, ach tá siad ag dul gan fáthmheas. Is é príomhchúis na gcásanna neamh-dhiagnóisithe seo an modh tástála. Is féidir PKS a dhiagnóisiú in utero trí amniocentesis, ach ó am go chéile, tá diúltach bréagach mar thoradh air seo.
Tar éis breithe, is fearr smearaidh buccal nó bithóipse craiceann a dhéanamh. Is féidir le tástáil fola eagar nua a bheith an-chruinn. Athghiníonn na cealla fola sa chorp go tapa agus fágann na cealla mósáic an sruth fola tar éis cúpla lá amháin, rud a fhágann go bhfuil diagnóis trí obair fola neamhchinntitheach nó bréagach diúltach. Iarr smearaidh buccal má tá aon chúis agat chun a chreidiúint go bhféadfadh tréithe siondróm a bheith ag do leanbh.
PKS has the following characteristics:
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low muscle tone
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sparse scalp hair at birth
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high, arched palate
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hypopigmentation
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diaphragmatic hernias
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extra nipples
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facial features that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes
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cognitive and developmental delays. Although most PKS children have these delays, many children are only mildly handicapped.
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.
