Kwayoyin cututtuka da suke hade da cin zarafi na adadin chromosomes suna adana bayanin haɗin kai a cikin kimanin kashi 1 cikin 100 na jarirai, yayin da kimanin kashi 20 cikin 100 na rashin kuskuren farkon farawa ne saboda mummunan tsari na chromosomes a cikin embryos. Sashin ciwon Patau yana daya daga cikin cututtukan chromosomal wanda bai dace da rayuwa ta al'ada ba.
Patau Syndrome - menene wannan cuta?
Sashin ciwon Patau yana bayyana da kasancewar a cikin sel na ƙarin lambar chromosome goma sha uku, watau. Maimakon guda biyu na chromosomes homologous irin wannan, akwai abubuwa uku irin wannan. Anomaly kuma an fassara ta da kalmar "trisomy 13". Kullum al'amuran chromosomes a cikin jikin jikin mutum (al'ada karyotype) suna wakiltar abubuwa 46 (nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i biyu suke da alhakin halayen jima'i Lokacin da ake nazarin karyotype a cikin kwayoyin jini, canje-canje a cikin tsari na chromosomes wanda basu shafar lafiyarsa ba zasu iya bayyanawa a cikin kowane mutum, amma iya yin jin kansu a cikin zuriya.
Patau Syndrome - irin gado
Lokacin da ake bincikar shi azaman "Patau syndrome", ana nuna karyotype ta hanyar irin wannan: 47 XX (XY) 13+. A wannan yanayin, kofi na uku na karo na uku na chromosome na iya kasancewa a cikin dukkan kwayoyin jikinsu, a wasu lokuta an samo karin samfurin chromosome kawai a wasu sel. Wannan yana faruwa ne saboda kuskure a cikin rarraba kwayoyin halitta a farkon ci gaba da amfrayo bayan haɗuwa da kwai da maniyyi, wanda ke faruwa a ƙarƙashin tasirin kowane ciki ko waje. Bugu da ƙari, ƙwararrun ƙwararrun zai iya fitowa daga mahaifi da uban, waɗanda ba su da bambancin kwayoyin halitta.
Bugu da ƙari, akwai lokuta inda za'a ƙara adadin lambar ƙwayoyin chromosome 13 zuwa wani chromosome a cikin kwai ko kwayar halitta, wanda ake kira fassarar. Wannan shi ne kawai nau'i na ciwon Patau wanda za'a iya aikawa daga ɗayan iyaye. Mutanen da ke yin musayar kwayoyin halitta kuma waɗanda basu nuna alamun cutar zasu iya watsawa ga yara da aka haifa ba.
Hadarin cututtuka 13
Sashin ciwon Patau a cikin tayi yana da haɗari mai haɗari, wanda babu wanda ke da rinjaye. Kwanan nan, ana ba da shawarar da yawa ma'aurata su yi karyotyping kafin shirin tsarawa, koda kuwa rashin haɗarin rashin lafiyar Patau ko wasu abubuwan rashin halayyar chromosomal ba a kafa ba. Wannan dabarar nazarin tsarin chromosomes na mace da namiji, ya nuna bambanci daban-daban. A mahimmanci, saboda nazarin iyayen iyayensu, yana yiwuwa a hango ko akwai yiwuwar wani nau'i na ilimin lissafi.
Kamar sauran cututtuka na chromosomal, cutar da aka yi la'akari da shi a mafi yawan lokuta yakan faru a cikin yara masu ciki da shekaru 35-45. Sabili da haka, a farkon lokacin da aka yi ciki an umurce shi idan akwai ciwon haɗarin ciwon Patau, amniocentesis shine nazarin kwayoyin tayi don kasancewar cututtukan kwayoyin halitta. Irin wannan bincike ana aiwatar da ita ta hanyar tayar da ƙwayar mahaifa da kuma tarin ruwa na mahaifa tare da gaban kwayoyin durƙusuwa na tayin.
Ciwo na Patau - yawan sauyin yanayi
Karyotype, halin halayen Patau ciwo, an rubuta kusan sau ɗaya ga dukan yara 7-14 dubu da aka haifa da rai. Abin da ya faru a cikin yara maza da 'yan mata daidai ne. Bugu da ƙari, yin ciki tare da irin wannan rabuwar cikin tayin yana cikin ƙungiyar a babban haɗari na rashin zubar da ciki ko haihuwa. A cikin kashi 75 cikin dari na iyaye, iyayen yara da wannan ganewar ba su da nakasasshen ƙwayoyin chromosomal, sauran ɓangarorin da suka ragu suna haɗuwa da nau'in haɗin kai - saboda canja wurin lambar ƙwayoyin chromosome wanda aka ƙaddamar daga 13 daga iyayen.
Ciwo na Patau - Sanadin
Kwayoyin da ba su da nau'i na cutar ba su da wata ma'ana ta farko, nazarin abubuwan da ke haifarwa yana buƙatar bincike mai zurfi. Har zuwa yau, ba'a riga an kafa shi a daidai lokacin da rashin cin nasara ya faru - lokacin da aka kafa jinsin jima'i ko a lokacin da aka kafa zygote. An yi imanin cewa cigaban chromosome yana da wuya a karanta kwayar halitta ta hanyar kwayoyin halitta, wanda ya zama tsangwama ga tsarin al'ada na al'ada, nasarar da ya dace da kuma dacewa da ci gaba da ci gaban su.
Masana kimiyya sun nuna cewa matsalar Patau za a iya hade da irin waɗannan abubuwa:
- daukan hotuna zuwa radiation radiation;
- abubuwa masu guba;
- cututtuka;
- yanayi mara kyau na yanayi;
- miyagun halaye na mahaifiyar.
Ciwon Patau - alamu
A wasu lokuta, lokacin da ba kawai yawan adadin kwayoyin jikinsu ke cikin jiki ba, ba a bayyana shi ba kuma ba a hanzarta bunkasa halittu ba, amma sau da yawa sauye-sauye suna da muhimmanci. Bugu da ƙari, baya ga lahani na waje da za a iya gani a cikin hoto, yanayin ciwon Patau yana ɓar da ƙwayoyin iri iri na ciki. Yawancin karkatacciyar ƙyama ne.
Bari mu duba abin da alamar cutar Patau ta kasance:
1. Abun hulɗa da tsarin mai juyayi:
- rage girman girma;
- cin zarafin samuwar jigilar cututtuka;
- rabuwa da ci gaban mutum;
- rashin haɓaka motar;
- lalacewar ƙwayar cuta;
- rashin hangen nesa;
- Kayan aiki;
- Hanyar jijiyar hypoplasia;
- microphthalmia;
- detachment na retina.
2. Magungunan ƙwayoyin cuta, ƙananan fata:
- ƙuntataccen wuyansa;
- gurbataccen siffar kwayoyin;
- lalata ƙafafu;
- umnaryan hernia;
- babu fata da gashi;
- kasancewar yatsunsu masu kyan gani a kan makamai ko hannu da ƙafafu ko ƙwayoyi;
- Matsayi na sassauki;
- sunken nose gada;
- kerkuku baki ;
- laushi mai laushi .
3. Urogenital bayyanar cututtuka:
- cysts a cikin Layer Cortical na kodan;
- bifurcation na ureters;
- anomalies na al'amuran.
4. Sauran anomalies:
- lahani na tsakiya-cardiac septums;
- fitarwa na manyan tasoshin;
- haddasa mummunan ɓarna;
- fitarwa na pancreas;
- Hannun da ba a kare ba;
- karin karin kayan, da sauransu.
Patau ta ciwo - hanyoyin bincike
Bayan haihuwar yaro, ƙwarewar ƙwayar cutar Patau ba ta nuna matsala ta hanyar dubawa ta gani. Don tabbatar da ganewar asali, an gwada gwajin jini don gano kwayar cutar Patau, duban dan tayi. Ana gudanar da bincike akan kwayoyin halitta a lokuta na mutuwar jariri, wanda ya sa ya yiwu a gano irin wannan cuta, don gane ko yana da alaƙa (muhimmin mahimmancin shirin yara).
Syndrome Patau - gwaje-gwajen
Yana da muhimmanci mafi mahimmanci don ƙayyadewa a daidai lokacin da ya rabu a farkon mataki na ciki, wanda za'a iya aikata kusan a ƙarshen farkon watanni. Kafin a haifi haihuwar Trisomy 13 za'a iya gano shi ta hanyar nazarin sel daga ruwan amniotic (ruwan amniotic) wanda aka samu a lokacin amniocentesis ko daga kwayoyin da kwayoyin halitta suka samu.
Za'a iya yin bincike akan layi idan iyaye suna fuskantar haɗari don bunkasa ilimin lissafi da kuma nuna bayanai game da masu tayi ciki. A lokuta daban-daban, ana amfani da irin wannan samfurin kayan samfuri don manufar nazarin yawan nauyin ƙwayoyin polymerase mai nauyin ƙwayar muraɗɗɗen sifa:
- daga makon takwas zuwa takwas - shan karamin adadin (ƙwararrun fata);
- daga makonni 14 zuwa 14 - zabin mahaifa mai dauke da tarin jikin tayi ta hanyar bango na baya na peritoneum;
- bayan makonni 20 - raguwa na jirgi na jini na igiya na umbilical.
Syndrome Patau a kan duban dan tayi
Farawa tare da makonni na sha biyu na ciki, ciwon ci gaba a cikin tayin zai iya ganewa ta hanyar ganewar asibiti. Patau's ciwo yana halin da kasancewar wadannan bayyanar cututtuka:
- polyhydramnios a cikin mata masu ciki ;
- wani karamin asymmetric kai a tayin;
- karin yatsunsu a kan wata gabar jiki;
- thickening na yanki yankin;
- mita na heartbeats, da dai sauransu.
Jiyya na ciwon Patau
Abin takaici, wannan zai iya ji, amma yara da ciwon Patau suna fama da rashin lafiya, saboda ba su da lafiya. ba zai yiwu a gyara abubuwan da ke faruwa ba daga chromosomal. Hadin Patau yana nufin zurfin rashin lafiya, rashin cikakkiyar nakasa. Iyaye suka yanke shawarar haihuwar jariri tare da irin wannan mummunar ya kamata a ƙaddara cewa zai buƙaci kulawa da magani kullum. Harkokin ƙwayar miki da maganin miyagun ƙwayoyi za a iya yi domin gyara aikin da ke da mahimman tsari da gabobin jiki, tilasta filastik, da rigakafin cututtuka da ƙura.
Patau ta ciwo - prognosis
Ga yara da aka gano tare da ciwo na Patau, yawancin rai ba ya wuce shekara guda. Sau da yawa irin waɗannan jariri suna mutuwa a farkon makonni ko watanni bayan haihuwa. Kasa da kashi 15% na yara suna da shekaru biyar, kuma a cikin kasashe masu ci gaba da tsarin kula da lafiyar jiki, kimanin kashi 2 cikin dari na marasa lafiya sun tsira zuwa shekaru goma. A wannan yanayin, har ma marasa lafiya wadanda ba su da babban lalacewa, baza su iya daidaita kansu ba kuma suna kula da kansu.