I-Down syndrome yinto engavamile kakhulu ye-chromosome yokuzalwa engabonakali kubantu, kodwa ngaba uyazi ukuba phantse nayiphi na iindidi zethu ezingama-23 zama-chromosomes zingenzeka ifomu le-trisomic? Nangona nayiphi i-chromosome ingenzeka kwifomu ye-trisomic, imbalwa kakhulu i-trisomi iyahambelana nobomi.
IiCromosomes kunye noThatshulwa
Iimpazamo ze-Chromosomal ziyaziwa ngokuba yinto ebangelekileyo yokuxhaphaza.
Kukholelwa ukuba ngaphezu kwesigamu sazo zonke izithandabuzo zingabangela ukungaqhelekanga kwe-chromosomal. Enyanisweni, malunga neepesenti ezingama-60 zezi zibangelwa i-trisomy kunye neepesenti ezingama-20 zifunyanwe zilahleka i-chromosome yesini. Enye ingxaki ye-chromosomal eqhelekileyo eyenza ukuphuphuma kwesisu kuhamba nge-triploidy. Ngehambo, i-fetus ifumana isethi epheleleyo yeekromosomes. Nangona i-Down syndrome iyona nto ixhaphakileyo i-trisomy ebonwa kwiintsana, ibuye inomngcipheko omkhulu wokukhulelwa kwesisu.
I-Trisomy 18 (i-Edwards syndrome)
I-Trisomy 18 ivela malunga ne-1 kwi-6,000 yokuzalwa. ukwenza ukuba malunga namaxesha alishumi kune-Down syndrome. Uninzi lweziganeko ze-trisomy 18 zibangelwa inombolo engaphezulu ye-18 ye-chromosome. Iipesenti ezi-5 eziseleyo zibangelwa ukudluliselwa okubandakanya i-chromosome 18.
Ngelishwa, abantwana abane-trisomy 18 banesiphako esibi sokuzalwa. Ininzi insana ene-trisomy 18 iya kuba neentlobo zentliziyo yesiphene, kwaye abaninzi banokuba neentsilelo zeentliziyo, kunye nemiphunga kunye nokungaqhelekanga kwintsimbi.
Ngenxa yokukhubazeka okunzulu ngokomzimba, ininzi intsana ene-trisomy 18 iya kufa kwiintsuku zokuqala zobomi. Ezi ntsana ezisindalayo ziye zaphazamiseka kwengqondo. Abaninzi abasaphila ngaphaya kweenyanga ezimbalwa zokuqala, kodwa abanye abantwana bahlala beselula.
I-Trisomy 13 (i-Patau syndrome)
I-Trisomy 13 (i-Patau syndrome) yinto yesithathu eqhelekileyo ye-autosomal engaqhelekanga phakathi kwabantwana abatsha, ngokulandela i-Down syndrome (trisomy 21) kunye ne-Edwards syndrome (i-trisomy 18).
Uninzi lweziganeko zibangelwa kwi-trisomy epheleleyo 13 kunye nenxalenye encinci ye-trisomy 13 ebangelwa ukubonakaliswa kwempahla kunye nokuhanjiswa kwendawo .
Abantwana abane-trisomy 13 banokuba neengxaki zomlomo kunye neentlungu, iminwe eminwe kunye neenzwane, izimo zangaphakathi ezingalunganga kwaye zijikeleze, ziphosakeleyo zentliziyo, kunye nobuchopho obunzima. Ngenxa yobunzima bezenzo zabo, ininzi yabantwana abazalwa nge-trisomy 13, bafa ngenyanga yokuqala.
47, i-XXY Syndrome (i-Klinefelter syndrome)
I-Klinefelter syndrome, 47, i-XXY, okanye i-XXY syndrome, ngumqathango obangelwa yi-X ye-chromosome eyongezelelweyo. Abantu abachaphazelekayo bane-X i-chromosomes kunye ne-Y ye-chromosome enye. Abantu abaninzi abaqondi ukuba bane-Klinefelter syndrome njengoko ukungafani ngenxa yokufumana i-chromosome eyongezelelweyo ye-X ayibonakali kwaye ayisoloko engafunyanwa.
Iingxaki eziphambili ezibonwa kwi-Klinefelter syndrome zincinci ezincinci kunye nokunciphisa ukuzala. Ukwahlukahlukana kwezinye izinto ezahlukileyo kunye nokuziphatha ziqhelekileyo; nangona kunjalo, ubunzima beempawu zikwazi ukuhluka kumntu kumntu.
47, i-XYY Amadoda
Amanye a makhwenkwe azalwa ene-Y chromosome eyongezelelweyo kwaye abe ne-47, i-XYY karyotype. Ngokuqhelekileyo, le kromosome Y eyongezelelweyo ibangela ukuba akukho zixhobo eziqhelekileyo okanye izifo zonyango.
Amadoda angama-47, i-XYY syndrome ngamanye amaxesha ingaba mude kunomyinge kwaye ingaba neyona mngcipheko wokuba ukhubaze ukufunda kunye nolwazi lokulibaziseka nolwazi lweelwimi. Ukulibaziseka okuphuhlisayo kunye neengxaki zokuziphatha nazo zinokwenzeka, kodwa ezi zimpawu ziyahluka ngokubanzi phakathi kwamakhwenkwe namadoda achaphazelekayo. Uninzi lwamadoda enama-47, i-XYY syndrome inokuphuhliswa ngokwesondo ngokuqhelekileyo kwaye inako ukukhulelwa abantwana.
47, XXX (i-Triplo-X, i-Trisomy X kunye ne-XXX Syndrome)
Amanye amantombazana azalwe nge-X syndrome. I-syndrome ye-Triple rhoqo ayinaso izixhobo eziphathekayo okanye iingxaki zonyango. Inxalenye encinci yabasetyhini abaneemeko ingaba nezitenxo zokusesikhathini kunye nokukhubazeka kokufunda, intetho yokulibazisa, kunye nokunciphisa izakhono zolwimi.
Nangona kunjalo, abaninzi abantu abanama-47, i-XXX syndrome banokuphucula ngokomzimba nangokwengqondo.
Iingxaki zeTrismi Kungakumbi Ukubangela ukutshatyalaliswa komtshato
I-Trisomy 15. I- Trisomy 15 ayilula. Uninzi ukukhulelwa nge-trisomy 15 ekupheleni kokuphuma kwesisu. Ekukhulelwe okuye kwaqhubela phambili, umntwana udla ngokungaqhelekanga kwimibala yabo yobuso kunye neentsimbi, izandla kunye neenyawo, kunye nokukhawuleza kokukhula. I-Trisomy 15 idibene ne- Prader-Willi syndrome .
I-Trisomy 16. I- Trisomy 16 yiyona nto eqhelekileyo ye-autosomal trisomy ebonwa kwiimpahla kunye ne-akhawunti ubuncinane ubuncinane beepesenti ezili-15 zokuqala. Uninzi lwama-fetus ane-trisomy 16 lu lahleka malunga neveki ezili-12 nangona ipesenti ezincinane zingase zilahleke kwi-trimester yesibili. Amantombazana ambalwa kunye ne-trisomy e-mosaic 16 asinda kwaze kwaba sekuzalweni. Ininzi yale ntsana inokukhubazeka kokukhula, imiba yengqondo, kwaye ifa kwasekusaneni.
I-Trisomy 22. Gcwalisa i-trisomy 22 yimbini yesibini exhaphakileyo ye-chromosomal ye-miscarriages. Ukusinda ngaphaya kwe-trimester yokuqala yokukhulelwa akunqabile. Ukugqiba i-trisomy 22 ayinqabile. Uninzi lwama-fetus one-trisomy epheleleyo ifa ngaphambi okanye ngokukhawuleza emva kokuzalwa ngenxa yeziphene ezinzima zokuzalwa.
> Imithombo:
> Hay, uWilliam W., Ukunciphisa, uRobin R., uLevin, i-Myron J., i-Sondheimer, uJudith M., i- Current Dediatric Diagnosis & Treatment, i -McGraw-Hill Companies, Inc. 2007.
> Nelson-Anderson, D., Water, C., i- Genetic Connection Isikhokelo sokuBhala iMbali yakho yeMpilo kunye neNtsapho > Sonters > Ukushicilela, ngo-1995.