Matenda otsika ndi omwe amapezeka mosavuta pakati pa anthu, koma kodi mumadziwa kuti pafupifupi magulu awiri alionse a ma chromosome angakhale ndi mawonekedwe a trisomic? Ngakhale kuti chromosome iliyonse ikhoza kuchitika mu mawonekedwe a trisomic, zochepa zokha zimagwirizana ndi moyo.
Chromosomes ndi Kusudzulana
Chromosomal anomalies amadziwika kuti ndi amodzi omwe amachititsa kuti asokonezeke.
Zimakhulupirira kuti zoposa theka la zonse zoperewera m'mimba zingayambidwe chifukwa chosawonongeka kwa chromosomal. Ndipotu, pafupifupi 60 peresenti ya izi ndi chifukwa cha mavuto ndipo 20 peresenti amapezeka kuti akusowa chromosome ya kugonana. Chinthu china chofala cha chromosomal chomwe chimabweretsa kuperewera kwa mayi ndi ulendo wautali. M'tsiku lina, mwanayo amalandira mankhwala owonjezera a ma chromosomes. Ngakhale kuti matenda a Down syndrome ndi omwe amapezeka kwambiri pakati pa ana, amakhalanso ndi chiopsezo chachikulu chopita padera.
Trisomy 18 (Edwards syndrome)
Trisomy 18 imapezeka pafupifupi 1 mwa 6,000 kubadwa kumene. kupanga izo mobwerezabwereza kawiri kuposa Down syndrome. Matenda ambiri a trisomy 18 amayamba ndi nambala yambiri ya chromosome 18. Zotsala 5 peresenti zimachokera ku translocation yokhudzana ndi chromosome 18.
Tsoka ilo, ana omwe ali ndi trisomy 18 ali ndi zilema zobadwa mwakuthupi. Ana ambiri omwe ali ndi trisomy 18 adzakhala ndi vuto la mtima, ndipo ambiri angakhalenso ndi zofooka za impso, ndi mapapu ndi zovuta.
Chifukwa cha zilema zobadwa mwakuthupi, ana ambiri omwe ali ndi trisomy 18 adzafera m'masiku oyambirira a moyo. Ana amene amapulumuka amakhala ndi vuto lalikulu la maganizo. Ambiri samapulumuka kupitirira miyezi ingapo yoyambirira ya moyo, koma ana ena amapulumuka mpaka atakula.
Trisomy 13 (Patau syndrome)
Trisomy 13 (Patau syndrome) ndiyo njira yachitatu yodabwitsa kwambiri ya autosomal pakati pa ana, potengera matenda a Down syndrome (trisomy 21) ndi Edwards syndrome (trisomy 18).
Ambiri amachokera ku trisomy 13 yokhala ndi chiwerengero chochepa cha trisomy 13 chomwe chimayambitsidwa ndi mosaicism ndi kusintha .
Ana omwe ali ndi trisomy 13 akhoza kukhala ndi milomo yodula komanso minofu, zala zala ndi zala, ziwalo zowonongeka ndi zozungulira, zofooka za mtima zobadwa, komanso zovuta za ubongo. Chifukwa cha kufooka kwa ziwalo zawo za thupi, ambiri mwa ana obadwa ndi trisomy 13, amafa mwezi woyamba.
47, XXY Syndrome (matenda a Klinefelter)
Matenda a Klinefelter, 47, XXY, kapena matenda a XXY, ndi chikhalidwe choyambitsa X chromosome yowonjezera. Anthu okhudzidwa ali ndi ma chromosomes aŵiri ndi Y y chromosome. Anthu ambiri sakudziwa kuti ali ndi matenda a Klinefelter monga kusiyana chifukwa chokhala ndi X chromosome yowonjezera sikumveka bwino ndipo nthawi zambiri kumakhala kosazindikira.
Mavuto akulu omwe amapezeka m'magulu a Klinefelter ndi mapulaneti ang'onoang'ono komanso kubereka kuchepa. Kusiyanasiyana kwina kwa thupi ndi khalidwe ndizofala; Komabe, kuuma kwa zizindikirozi kumasiyana mosiyana ndi munthu.
47, XYY Amuna
Anyamata ena amabadwa ndi chromosome Y yowonjezera ndipo ali ndi 47, XYY karyotype. Kawirikawiri, mankhwalawa a Y chromosome amachititsa kuti zisakhale zachilendo kapena zovuta zachipatala.
Amuna omwe ali ndi zaka 47, matenda a XYY nthawi zina amatha kukhala aakulu kuposa momwe angapangire ndipo angakhale ndi chiopsezo chowonjezereka chophunzirira komanso kuchepetsa kulankhula ndi maluso. Kuchedwa kuchepetsa ndi mavuto a khalidwe ndi kotheka, koma makhalidwewa amasiyana kwambiri pakati pa anyamata ndi abambo omwe akukhudzidwa. Amuna ambiri omwe ali ndi zaka 47, matenda a XYY amakhala ndi chitukuko chogonana komanso amatha kutenga pakati.
47, XXX (Triplo-X, Trisomy X, ndi XXX Syndrome)
Atsikana ena amabadwa ndi matenda a X katatu. Matenda a X katatu sakhala ndi zinthu zofanana kapena mavuto azachipatala. Chiwerengero chochepa cha amayi omwe ali ndi vutoli akhoza kukhala osasamba kumwezi komanso kulephera kuphunzira, kuchedwa kulankhula, ndi kukhumudwitsa maluso.
Komabe, anthu ambiri okhala ndi matenda a 47, XXX ali ndi thupi labwino komanso labwino kwambiri.
Zokwanira Zowonjezera Zopangitsa Kusudzulana
Trisomy 15. Trisomy 15 ndi yachilendo. Amayi ambiri omwe ali ndi pakati ndi trisomy 15 amatha kutuluka padera. Pakati pa mimba zomwe zapita patsogolo, mwana wamwamuna nthawi zambiri amakhala ndi zovuta za nkhope ndi zovuta, manja ndi mapazi, ndi kuchepa kwa kukula. Trisomy 15 yakhala ikugwirizana ndi matenda a Prader-Willi .
Trisomy 16. Trisomy 16 ndi yodziwika kwambiri ya trisomy ya autosomal yomwe imapezeka m'mabvuto olakwika komanso oposa 15 peresenti ya kuperewera kwa miyendo itatu yoyamba. Matumbo ambiri omwe ali ndi trisomy 16 amatayika pozungulira masabata khumi ndi awiri ngakhale kuti peresenti yaing'ono ingathe kutayika mu trimester yachiwiri. Ma fetusi ochepa omwe ali ndi trisomy 16 amakhalapo mpaka atabadwa. Ambiri mwa ana amenewa ali ndi zolephereka kuwonjezeka, nkhani za maganizo, ndikufa ali akhanda.
Trisomy 22. Complete trisomy 22 ndi yachiwiri chifukwa cha chromosomal chifukwa cha kusokonezeka. Kupulumuka kupitirira zaka zitatu zoyambirira za mimba ndizosowa. Trisomy 22 yomaliza ndi yosavuta kwambiri. Matenda ambiri omwe amatha kukhala ndi trisomy 22 amamwalira kapenanso atangobereka kumene chifukwa cha zofooka zazikulu.
> Zotsatira:
> Hay, William W., Deterding, Robin R., Levin, Myron J., Sondheimer, Judith M., Kufufuza Kwachipatala ndi Kuchiritsidwa, The McGraw-Hill Companies, Inc. Khumi ndi Khumi. 2007.
> Nelson-Anderson, D., Madzi, C., Genetic Connection Mtsogoleli Wosindikiza Mbiri Yanu ya Moyo Wanu ndi Za Banja > Sonters > Kusindikiza, 1995.