Uma sicabanga nge-Down's syndrome, isimo sokuqala esicabanga ngaso i-trisomy 21, noma i-Down syndrome. Kangangoba uma sikhuluma ngomuntu one-Down's syndrome, empeleni sicabanga ukuthi une-Down's syndrome.
Kodwa-ke, i-trisomy ichaza ngaphezu kwakho konke ukuphazamiseka kofuzo, ngakho-ke kungathatha izinhlobo ezahlukene. Ngakho empeleni kunezinhlobo eziningana ze-Down's syndrome.
Yini i-Down's syndrome?
I-Down's syndrome ingaphezu kwayo yonke indaba ama-chromosomes. Sikhuluma nge-aneuploidy, noma ngaphezulu nje kwe-chromosomal anomaly. Kumuntu ojwayelekile, ongaphethwe yi-Down's syndrome, ama-chromosome ahamba ngamabili. Kunamapheya angama-23 ama-chromosome kubantu, noma ama-chromosome angama-46 esewonke. Sikhuluma nge-trisomy lapho okungenani eyodwa yamapheya ingenawo amabili, kodwa ama-chromosome amathathu.
Lokhu kuphazamiseka kwe-chromosomal kungenzeka ngesikhathi sokusatshalaliswa kwefa lofuzo labalingani ababili ngesikhathi kwakhiwa ama-gametes (i-oocyte ne-spermatozoon), bese kuthi ngesikhathi sokuvundiswa.
I-Down's syndrome ingathinta noma yimaphi ama-chromosomes, eyaziwa kakhulu yileyo ephathelene nama-chromosome angama-21. Eqinisweni, kungase kube nama-trisomies amaningi njengoba kunamapheya ama-chromosome. Kuphela, kubantu, ama-trisomies amaningi agcina ngokuphuphunyelwa yisisu, ngoba umbungu awukwazi ukuphila. Lokhu ikakhulukazi ku-trisomy 16 kanye ne-trisomy 8.
Yiziphi izinhlobo ezivame kakhulu ze-Down's syndrome?
- I-Trisomy 21, noma i-Down syndrome
I-Trisomy 21 okwamanje okokuqala kutholwe imbangela yokushoda ngokofuzo ngokwengqondo. Futhi iyi-trisomy evamile futhi esebenzayo. Kubhekwa ngokwesilinganiso phakathi nokukhulelwa okungama-27 kwabayishumi futhi imvamisa yakhona iyanda ngeminyaka yomama. Cishe zingu-10 izingane ezizalwa ezine-Down's syndrome ngonyaka eFrance, ngokusho kwe-Lejeune Institute, enikeza ukwesekwa kwezokwelashwa nangokwengqondo kulabo abathintekile.
Ku-trisomy 21, i-chromosome 21 iphindwe kathathu esikhundleni sokubili. Kodwa kukhona “izigaba” ezizochaza i-trisomy 21:
- i-trisomy yamahhala, ephelele ne-homogeneous 21, okumelela cishe amaphesenti angu-95 ezimo ze-trisomy 21: ama-chromosome amathathu angu-21 ahlukaniswe elinye nelinye, futhi ukudida kwabonwa kuwo wonke amaseli ahloliwe (okungenani lawo ahlaziywe elabhorethri);
- I-mosaic trisomy 21 : amaseli anama-chromosome angu-47 (okuhlanganisa nama-chromosome angu-3 21) ahlala ndawonye namaseli anama-chromosome angu-46 okuhlanganisa nama-chromosome angu-2 21. Ingxenye yezigaba ezimbili zamaseli iyahlukahluka kusukela kwesinye isihloko kuya kwesinye futhi, kumuntu ofanayo, ukusuka komuntu oyedwa kuya komunye. isitho noma izicubu kuzicubu;
- trisomy 21 by translocation : i-genome karyotype ibonisa ama-chromosome amathathu angu-21, kodwa akuwona wonke aqoqwe ndawonye. Enye yama-chromosome amathathu 21 ingaba nama-chromosome amabili 14, noma 12 ...
Izimpawu eziyinhloko ze-Down's syndrome
« Umuntu ngamunye one-Down's syndrome okokuqala, uhlukile, unefa eliphelele lofuzo kanye nendlela yakhe yokuqala yokusekela lokhu okweqile kwezakhi zofuzo. », Imininingwane ye-Lejeune Institute. Nakuba kunokuhlukahluka okukhulu kwezimpawu kusukela kumuntu oyedwa one-Down's syndrome kuya komunye, kunezici ezithile ezivamile zomzimba nengqondo.
Ukukhubazeka ngokomqondo kuyinto engaguquki, ngisho noma imakwa kancane ukusuka komunye kuya komunye. Kukhona nezimpawu ezibonakalayo zomzimba: ikhanda elincane neliyindilinga, intamo encane nebanzi, amehlo avuleke kakhulu, i-strabismus, impande engacacile yekhala, izandla eziqinile neminwe emifushane… izinkinga zokuzalwa kwesinye isikhathi ingangezwa kulezi zimpawu, futhi idinga ukuqashwa okubanzi kwezokwelashwa: inhliziyo, iso, ukugaya ukudla, ukukhubazeka kwamathambo ...
Ukuze ubhekane kangcono nalezi zinkinga futhi unciphise ukukhubazeka ngokomzimba nangokwengqondo, ukunakekelwa kwe-multidisciplinary kubantu abane-Down's syndrome : izazi zofuzo, izazi ze-psychomotor, i-physiotherapist, izazi zokukhuluma ...
- I-Trisomy 13, noma i-Patau's syndrome
I-Trisomy 13 ibangelwa ukuba khona kweyesithathu ama-chromosomes 13. Isazi sofuzo saseMelika u-Klaus Patau waba ngowokuqala ukusichaza, ngo-1960. Isigameko saso silinganiselwa phakathi kokuzalwa kuka-1 / 8 kanye no-000 / 1. Lokhu kuphazamiseka kofuzo ngeshwa kunemiphumela emibi kakhulu ku-fetus ethintekile: ukukhubazeka okukhulu kobuchopho nenhliziyo, ukungaboni kahle kwamehlo, ukukhubazeka kwamathambo kanye nesistimu yokugaya ukudla…. Ingxenye enkulu (cishe i-15-000%) yezingane ezithintekayo ziyafa ku-utero. Futhi ngisho noma isinda, ingane ene-Down's syndrome inakho isikhathi sokuphila esiphansi kakhulu, izinyanga ezimbalwa kuya eminyakeni embalwa kuye ngokukhubazeka, futhi ikakhulukazi uma kwenzeka i-mosaicism (izinhlobo ezahlukene ze-genotype zikhona).
- I-Trisomy 18, noma i-Edward syndrome
I-Trisomy 18 ibonisa, njengoba negama layo libonisa, ukuba khona kwe-chromosome engu-18 eyengeziwe. Lokhu kuphazamiseka kofuzo kwachazwa okokuqala ngo-1960 isazi sezofuzo esiyiNgisi uJohn H. Edwards. Izehlakalo zale trisomy ziyalinganiselwa ekuzalweni okungu-1/6 kuya ku-000/1. Ezimweni ezingu-18%, i-trisomy 95 iphumela ukufa ku-utero, iqinisekisa indawo Yezintandane, ingosi yezifo ezingavamile. Ngenxa yokukhubazeka okukhulu kwenhliziyo, imizwa, ukugaya ukudla noma ngisho nezinso, izingane ezisanda kuzalwa ezine-trisomy 18 ngokuvamile ziyafa phakathi nonyaka wazo wokuqala wokuphila. Nge-mosaic noma i-translocation trisomy 18, isikhathi sokuphila sikhulu, kodwa aweqi ebudaleni.
- I-Down's syndrome ethinta ama-chromosome ocansi
Njengoba i-trisomy ichazwa ngokuba khona kwe-chromosome eyengeziwe ku-karyotype, wonke ama-chromosome angabandakanyeka, kuhlanganise nama-chromosome ocansi. Kukhona futhi ama-trisomies athinta ipheya lama-X noma ama-XY chromosome. Umphumela oyinhloko walawa ma-trisomies uwukuthinta imisebenzi exhunywe kuma-chromosome ocansi, ikakhulukazi amazinga amahomoni ocansi nezitho zokuzala.
Kunezinhlobo ezintathu ze-chromosome trisomy yocansi:
- i-trisomy X, noma i-triple X syndrome, lapho umuntu enama-X chromosome amathathu. Ingane enale trisomy ngowesifazane, futhi ayivezi izinkinga ezinkulu zempilo. Lokhu kuphazamiseka kofuzo kuvame ukuvela kutholwe ebudaleni, ngesikhathi sokuhlolwa okujulile.
- I-Klinefelter syndrome, noma i-XXY trisomy : Umuntu unama-chromosome amabili e-X kanye ne-Y chromosome eyodwa. Umuntu ngokuvamile ungowesilisa, futhi ongazali. Le trisomy idala izinkinga zempilo, kodwa akukho ukukhubazeka okukhulu.
- Jacob's syndrome, noma i-trisomy 47-XYY : ukuba khona kwama-chromosome angu-Y amabili kanye ne-X chromosome eyodwa. Umuntu wesilisa. Lokhu kuphazamiseka kofuzo akudali azikho izimpawu zesici okukhulu, kuvame ukubonwa lapho umuntu esekhulile, ngesikhathi se-karyotype eyenziwa ngenye inhloso.
Kunophawu oluncane, lokhu kungavamile kofuzo okuphathelene nama-chromosome X kanye no-Y akuvamile ukutholakala. esibelethweni.
Ngakolunye uhlangothi, wonke amanye ama-trisomies (I-trisomy 8, 13, 16, 18, 21, 22 ...), uma zingabangeli ngokwemvelo ekuphuphumeni kwesisu okuzenzakalelayo, ngokuvamile kusolwa nge-ultrasound, kunikezwe ukuncipha kokukhula, kusetshenziswa isilinganiso se-nuchal translucency, i-trophoblast biopsy, noma i-'amniocentesis, ukwenza i-karyotype uma kusolwa i-trisomy. Uma i-trisomy ekhubazayo ifakazelwa, ukunqanyulwa kokukhulelwa kwezokwelapha kuhlongozwa ithimba lezokwelapha.