Ngelishwa, njengako nakuphi na ukungaqhelekanga kofuzo, akukho lunyango enokubuyisela ifa lechromosomal etshintshileyo.
El Patau syndrome yindlela yesithathu eqhelekileyo ye-trisomy ehlabathini, emva kwe-Down syndrome (okanye i-trisomy 21) kunye ne-Edward syndrome (okanye i-trisomy 18).
Isikhumbuzi esifutshane semfuzo
Yonke iseli yomntu osempilweni inayo Ngama-23 ezibini zeechromozomi zehomologous: 23 ngoomama, oko kukuthi, ilifa kunina, yaye 23 ngootata, oko kukuthi, ilifa kuyise.
Injani i-trisomy 13?
La i-trisomy 13, kwaziwa njenge Patau syndrome, yimeko enzima yokuzalwa (oko kukuthi, ekhoyo ukususela ekuzalweni) ebonakala kubukho beekopi ezintathu zechromosome 13.
IChromosome 13
El ichromosome 13 Luhlobo lwe-autosomal chromosome kwaye imele i-3,5-4% ye-DNA iyonke, ekhoyo kuzo zonke iiseli zomntu. Nangona abaphandi beyifunde ixesha elide, abakakwazi ukumisela inani elichanekileyo leemfuza eziquletheyo: umlinganiselo uyahluka phakathi Ama-300 kunye nama-700 ezakhi zofuzo.
Kubantu abane-trisomy 13, i-chromosome eyongezelelweyo ye-13 inokugqitywa (ngaloo ndlela ifane ngokupheleleyo nezimbini eziqhelekileyo) okanye inxenye (ithetha ukuba inxalenye ayikho). Xa igqityiwe, ibizwa ngokuba I-trisomy epheleleyo 13; xa iyingxenye, sithetha ngayo i-trisomy engaphelelanga 13.
Uninzi lwabathwali be-Patau syndrome, zonke iiseli zomzimba zineekopi ezintathu ze-chromosome 13; nangona kunjalo, ayinakwenzeka ukuba i-trisomy ilinganiselwe kwinani elithile leeseli. Kule meko yesibini, iingcali zemfuza nazo zithetha i-mosaicism yemfuzo.
Ibonakala njani iPatau Syndrome?
Ngokuqhelekileyo ngexesha lokukhulelwa, iqanda (ibhinqa) kunye nesidoda (indoda) iqulethe 23 iichromosomes inye. Ukudityaniswa kwezi zinto zimbini kukhokelela ekubunjweni kweqanda elichumileyo (i-embryo yexesha elizayo), equlethe iichromosomes ezingama-46 zizonke. I-trisomy efana ne-Patau syndrome idla ngokuvela ngenxa yokuba iqanda okanye isidoda sinechromosome eyongezelelweyo.
El iqanda elichumileyo kwaye i-embryo yexesha elizayo iya kuba neeseli eziqulathe 47 iichromosomes kunye no-46.
Imiba yengozi
La ubudala kamama ngumngcipheko onokwenzeka we-Patau syndrome. Oku kusebenza nakwezinye iindlela eziqhelekileyo ze-trisomy, ezifana ne-Down syndrome kunye ne-Edwards syndrome.
Iimpawu kunye neengxaki
Umfanekiso we-symptomatological uxhomekeke kakhulu kubunzima kunye nokuguqulwa kwechromosomal. Ngokuqhelekileyo umntwana ochaphazelekayo unaye ezahlukeneyo zangaphandle nangaphakathi emzimbeniezibandakanya:
- Intloko encinci (sifumana).
- IHoloprosencephaly. Yiloo meko ethile ye-pathological apho ingqondo ingahlulwanga ibe ngama-hemispheres amabini, njengoko ifanele ukuba njalo. Oku kubangela iingxaki zemithambo-luvo (ukukhubazeka kwengqondo) kunye neziphene zobuso ezinobunzima obahlukeneyo.
- Eumnqonqo bifida uvule. Lolona hlobo luyingozi lwespina bifida, olukwachaphazela umnqonqo. Kubantu abanale meko, i-meninges kunye nentambo yomgogodla iphuma (eyaziwa ngokuba yi-hernia) ukusuka kwizindlu zabo ze-vertebral, zenza i-sac ephumayo kwinqanaba lomqolo. Nangona ikhuselwe ngumaleko wolusu, le ngxowa ibonakaliswe kuhlaselo lwangaphandle kwaye isoloko isemngciphekweni wokumandundu kwaye, kwezinye iimeko, nosulelo olubulalayo.
- Impumlo ebanzi.
- Iindlebe ezimile eziphantsi nezingaqhelekanga; ukungeva kunye nosulelo lwendlebe oluphindaphindiweyo.
- Iziphene zamehlo zeentlobo ngeentlobo. Abathwali be-Trisomy 13 bahlala benamehlo amancinci kakhulu (i-microphthalmia) kwaye basondele kakhulu omnye komnye (hypotelorism). Kwiimeko ezinzima, baneliso elinye kuphela (anophthalmia) kunye / okanye ukubandezeleka i-coloboma yamehlo. I-ocular coloboma yintlupheko yeliso enokuthi ichaphazele i-lens, iris, i-choroid, i-retina kunye / okanye i-eyelid. Ezinye izigulana azinayo ngokupheleleyo i-retina. Ngokucacileyo, phambi komnye okanye ngaphezulu kwezi meko, izakhono ezibonakalayo zichaphazelekayo.
- Harelip kunye / okanye inkalakahla ecandekileyo. Imeko yokuqala iquka ikhefu emlonyeni ongasentla, ngelixa imeko yesibini kukuphuka kwinkalakahla.
- I-Aplasia yolusu (okanye i-aplasia ulusu). Ligama lonyango lokungabikho kwesikhumba kwiindawo ezithile ze-scalp. Abo bayiphetheyo batyekele ekufumaneni izifo eziphindaphindiweyo kunye nezilonda. Ukongezelela, ulusu lunomsebenzi wokukhusela kwi-microorganisms (iibhaktheriya, iintsholongwane, njl.).
- Polydactyly (o hyperdactyly) kunye camptodactyly. Igama lokuqala libhekisa ekubeni neminwe engaphezu kwemihlanu kunye / okanye iinzwane. Ixesha lesibini libonisa ukungahambi kakuhle kwezandla zombini, ezibonakaliswe ngokuguquguquka okusisigxina kwamalungu e-interphalangeal.
- Emadodeni, I-cryptorchidism (i-testicle engapheliyo) kunye nokungahambi kakuhle kwe-scrotum kunye ne-genitalia (micropenis); kwabasetyhini, i-bicornuate uterus e i-clitoral hypertrophy.
- Ubunzima bokuphefumla kunye neziphene zentliziyo. Iziphene zentliziyo kunye nezinto ezingaqhelekanga ziquka okubizwa ngokuba yi-interatrial kunye ne-interventricular defects, i-patent ductus arteriosus, isifo senhliziyo se-valvular (ingakumbi esichaphazela i-aortic kunye ne-pulmonary valves), kunye ne-dextrocardia (intliziyo itshintshele ngasekunene, kunokuba ngasekunene).
- Izintso ezinamaqhina. Ukubonakala kwayo kukukhumbuza kakhulu kwizintso zabantu abanesifo sezintso ze-polycystic.
- Iziphako zesisu.
Emva kwenyanga enye yobomi
Ukuba umntwana osanda kuzalwa ufikelela kwinyanga enye yobomi, uya kuba nezigulo ezininzi, kuquka:
- Ubunzima bokutya ngokufanelekileyo.
- Ukuqunjelwa
- I-reflux ye-Gastroesophageal.
- Izinga lokukhula okucothayo.
- I-Scoliosis.
- Utyekelo lokucaphuka.
- Ukuvakalelwa kukukhanya kwelanga (photophobia).
- Ukunciphisa ithoni yemisipha
- Uxinzelelo lwegazi.
- I-Sinusitis kunye nosulelo lwe-urinary tract, amehlo kunye neendlebe.
Uxilongo
Oogqirha banokufumanisa i-Patau syndrome nokuba engekazalwa umntwana. Iimvavanyo zokuchongwa kwesi sifo kwisigaba sangaphambi kokubeleka zezi: i-fetal ultrasound, i-amniocentesis (ingqokelela ye-transabdominal encinci ye-amniotic fluid, yenziwa kwiiveki ezili-16 okanye ezili-18) kunye ne-CVS (yenziwa kwiiveki ezili-10 okanye ezili-12) . Ngokuqhelekileyo kwenziwa phakathi kweveki ye-16 kunye ne-18.
Ukuba ngenxa yezizathu ezahlukeneyo akunakwenzeka ukwenza olu lawulo lukhankanywe ngasentla, ukuxilongwa kwe-trisomy 13 kwenzeka ekuzalweni, ngovavanyo oluchanekileyo lomzimba kunye nohlalutyo lwe-chromosomal yesampuli yegazi.
Unyango
Patau syndrome yi isigulo esinganyangekiyoEkubeni akukho nyango lunokubuyisela ukubunjwa kwechromosome eqhelekileyo, kungekhona ngexesha lokuphila kwangaphambi kokubeleka okanye emva kokuzalwa.
Nangona kunjalo, ukuba umntwana uyasinda, unyango lweempawu luya kwenziwa. Okuchaphazelekayo kuya kuqwalaselwa.
Ingqondo
Ubomi obulindelekileyo bomntu onePatau syndrome bulinganiselwe kakhulu. Uphononongo lwe-Anglo-Saxon lubika ukuba:
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- Umyinge wokuphila ophakathi ziintsuku ezi-2,5.
- Malunga ne-50% yeentsana ezichaphazelekayo zihlala kwisithuba nje seveki.
- I-5-10% yezifundo ezine-trisomy 13 zihlala ngaphezu nje konyaka.