I-Trisomy 13 ingafunyanwa ngexesha okanye emva kokukhulelwa
I-Chromosomal engafanelekanga yenye yezona zizathu eziqhelekileyo zokukhulelwa kwesisu kunye nokuzala. Kwimeko eyaziwa ngokuba yi-trisomy, umntu ochaphazelekayo uneekopi ezintathu ze-chromosome ethile esikhundleni sezinto ezimbini (abantu bamele babe nama-chromosomes angama-46, ii-23 zibini). Kukho iintlobo ezahlukeneyo zezifo ezifana ne-Down syndrome (trisomy 21), i-syndrome ye-Edwards (iTrisomy 18) kunye ne-Patau syndrome (iTrisomy 13).
I-Patau syndrome yiyona nto inzima kakhulu.
Iintsana ezinePatau syndrome ziza kuba neziphathamandla eziphathekayo, ukukhubazeka kwengqondo kunye neengxaki kunye nezitho zangaphakathi. Uninzi lweintsana ezichaphazelekayo ziyafa ngenyanga yokuqala emva kokuzalwa okanye kunyaka wokuqala ngenxa yeengxaki zempilo ezihambelana nale meko.
Malunga ne-1 000 kwiintsana ezingama-16 000 izalelwa nge-Patau syndrome. Abaphandi bakholelwa ukuba malunga neepesenti ezingama-95 zeentsana ezinePatau syndrome zilahlekile okanye zizalwe. Akukho mntu uyazi ukuba kutheni abanye baphila kwixesha xa abanye bengenzi. Abantwana abaninzi abasindayo abahlali kwiveki yokuqala. Amaphesenti amahlanu ukuya kwi-10 kuphela awenza okokuqala ngosuku lokuzalwa.
Ukuchonga i-Trisomy 13
Ukuhlolwa kokuqala kokubeletha okufana nokuhlolwa kwe- alphafetoprotein kunye nokukhulelwa kwe-ultrasound kungabonisa iimpawu zeemeko ze-chromosomal kodwa zikwazi ukubonelela ukuxilongwa. Iimvavanyo zemizimba kuphela ezifana ne- amniocentesis kunye nesampuli ye-chorionic villus (i-CVS) inokubonelela ngokucacileyo.
Kwakhona kunokwenzeka ukuba i-Patau syndrome ingabonakaliswa njengesizathu sokulahleka kokukhulelwa xa eso sibini sifuna i-karyotyping yezofuzo emva kokusweleka kwesisu okanye ukubeleka.
Iintlobo zePatau Syndrome
Njengaye nezinye iingxaki ze-trisomy, kukho iintlobo ezintathu ze-Patau syndrome:
- I-trisomy epheleleyo 13: uhlobo oluqhelekileyo. Abantu abanolu hlobo baneikopi ezintathu ze-chromosome 13.
- I-trisomy ekhethekileyo 13: Abantu banayo iikopi ezipheleleyo ze-chromosome 13 kunye nengxenye eyongezelelweyo ye-chromosome 13.
- I-trisomy kaMoses 13: Ezinye zeeseli zomzimba zineemifanekiso ezintathu ze-chromosome 13 kanti ezinye zineikopi eziqhelekileyo.
Ingozi yokuphindaphinda
Ininzi yexesha, imbangela ye-trisomy 13 yiphutha lokungahambi ngokungafaniyo kwi-cell division ngexesha lokwakhiwa kweqanda okanye i-sperm, oku kuthetha ukuba ingxaki ikhona ngexesha lokuchumisa. Kule meko, ingxaki ayinakwenzeka ukuba iphinde ibuye. Kwiimeko ezinqabileyo, umzali unokufumana ukuhanjiswa okulinganiselayo okubandakanya i-chromosome 13. Abantu abanokufudumala ngokufudumelanayo banomngcipheko ophezulu wokuba nomntwana onomdla ongathandabuzekiyo 13 kwakhona.
Ukugqiba Oko Ukwenza Ukuba Umntwana Wakho Unayo I-Patau Syndrome
Enye yezinto zokuqala onokuzibuza ukuba umntwana wakho ufumana ukuxilongwa kwe-Patau syndrome kungakhathaliseki ukuba ufuna ukuqhubeka nokukhulelwa (okanye ulandelele ingenelelo enzulu xa umntwana ezalwa eneengxaki zempilo). Ngethuba lokukhulelwa, abanye abazali bakhetha ukuphelisa iintsana ezifunyaniswe ne-Patau syndrome ngenxa yokugxekwa ngokusesikweni kunye nomnqweno wokungaze wongeze intlungu yokulahleka. Abanye baqhubeka nokukhulelwa ngenxa yeenkolelo ekukhutsheni isisu okanye ngenxa yokuba banomuvo wokuba bafumane ixesha kunye nosana nokuba ngaba luba lufutshane.
Kuyafana nakwiziintsana ezifunyanwe emva kokuzalwa - abanye abazali bakhetha ukhathalelo lwentuthuzelo kuphela, kanti abanye bakhetha ukungenelelo olunzulu lwezonyango nangona amathuba ebonakala enqabileyo ukuba umntwana uya kusinda ebusana.
Ukuba umntwana wakho ufumene ukuba une-Patau syndrome, unokufumana nayiphi na imvakalelo yeso sihlwili kuya kwintlungu ukuze udideke ukuze uzive ukhululekile. Kuhle ukuba uthathe ixesha lakho kwaye uqhube imeko phambi kokuba uqhube phambili kwaye wenze izigqibo okanye izicwangciso. Akukho ndlela "yokunene" yokuziva kwaye akukho nto "yechanekileyo" yezenzo ezithathayo ukuthabatha kwezi zifo. Kufuneka wenze nantoni na ovakalelwa kukuba uya kukwazi ukuhlala nayo, kwaye impendulo iyahlukileyo kuwo wonke umntu.
Kungakhathaliseki ukuba uthatha isigqibo, kukuhle ukulibala ukulahlekelwa yintsana okulindele ukuba nayo. Kunokuba luncedo ukujoyina amaqela enkxaso kubazali beintsana ezinePatau syndrome okanye ezinye izifo ezinzulu ze-chromosomal.
Imithombo:
Patau Syndrome. IThala leSizwe lezeMpilo. Iimviwo zeeGenestic Specialists Library.
I-Trisomy 13 - I-Referential Home Reference. IThala leSizwe leMicrothelo.