Ha re nahana ka Down's syndrome, boemo ba pele boo re nahanang ka bona ke trisomy 21, kapa Down syndrome. E leng hore ha re bua ka motho ea nang le Down's syndrome, re nka hore o na le lefu la Down's syndrome.
Leha ho le joalo, trisomy e hlalosa ka holim'a tsohle bothata ba liphatsa tsa lefutso, ka hona e ka nka mefuta e fapaneng. Kahoo ho na le mefuta e 'maloa ea Down's syndrome.
Down's syndrome ke eng?
Down's syndrome ke pale ea pele ho tsohle li-chromosome. Re bua ka aneuploidy, kapa ho feta chromosomal anomaly. Ho motho ea tloaelehileng, ea sa tšoeroeng ke lefu la Down's, li-chromosome li tsamaea ka bobeli. Ho na le lipara tse 23 tsa li-chromosome ho batho, kapa li-chromosome tse 46 ka kakaretso. Re bua ka trisomy ha bonyane e 'ngoe ea lipara e se na tse peli, empa li-chromosome tse tharo.
Ena chromosomal anomaly e ka etsahala nakong ea ho ajoa ha lefa la liphatsa tsa lefutso tsa balekane ba babeli nakong ea ho thehoa ha li-gametes (oocyte le spermatozoon), ebe nakong ea kemolo.
Down's syndrome e ka ama para efe kapa efe ea li-chromosome, e tsebahalang haholo ke e amanang le li-chromosome tsa bo21. Ha e le hantle, ho ka ba le li-trisomies tse ngata joaloka lipara tsa li-chromosome. Feela, ka batho, li-trisomies tse ngata li qetella ka ho senyeheloa ke mpa, hobane lesea le sa tsoa emoloa ha le khone ho phela. Sena ke 'nete haholo bakeng sa trisomy 16 le trisomy 8.
Ke mefuta efe e atileng haholo ea Down's syndrome?
- Trisomy 21, kapa Down syndrome
Trisomy 21 ke eona hona joale sesosa sa pele se fumanoeng sa khaello ea kelello ea liphatsa tsa lefutso. Hape ke trisomy e tloaelehileng haholo le e sebetsang. E bonoa ka karolelano nakong ea bokhachane ba 27 ho ba 10 mme khafetsa ea eona e eketseha ka lilemo tsa bakhachane. Ho na le tsoalo ea bana ba ka bang 000 ba nang le Down's syndrome ka selemo Fora, ho latela Setsi sa Lejeune, tšehetso ea bongaka le kelello ho ba amehileng.
Ho trisomy 21, chromosome 21 e na le likarolo tse tharo ho e-na le tse peli. Empa ho na le "lihlopha" tse hlalosang trisomy 21:
- trisomy e sa lefelloeng, e felletseng le e tšoanang 21, e emelang hoo e ka bang 95% ea linyeoe tsa trisomy 21: li-chromosome tse tharo tse 21 li arohane ho tse ling, 'me ho ile ha hlokomeloa phoso liseleng tsohle tse hlahlobiloeng (bonyane tse hlahlobiloeng ka laboratoring);
- mosaic trisomy 21 : lisele tse nang le li-chromosome tse 47 (ho akarelletsa le li-chromosome tse 3 tsa 21) li phela hammoho le lisele tse nang le li-chromosome tse 46 ho kenyeletsa le li-chromosome tse 2 21. Karolo ea lihlopha tse peli tsa lisele e fapana ho ea ka taba e 'ngoe ho ea ho e' ngoe, 'me ho motho a le mong, ho tloha ho motho ho ea ho e mong. setho kapa lisele ho lisele;
- trisomy 21 by translocation : genome karyotype e bonts'a li-chromosome tse tharo tse 21, empa ha se kaofela li kopantsoe hammoho. E 'ngoe ea li-chromosome tse tharo tse 21 mohlala e ka ba le li-chromosome tse peli 14, kapa 12 ...
Matšoao a mantlha a lefu la Down
« Motho e mong le e mong ea tšoeroeng ke lefu la Down's syndrome pele ho tsohle ke eena, oa ikhetha, ea nang le liphatsa tsa lefutso tse felletseng le tsela ea hae ea pele ea ho tšehetsa ho fetelletseng hona ha liphatsa tsa lefutso. », Lintlha tsa Setsi sa Lejeune. Le hoja ho na le phapang e khōlō ea matšoao ho tloha ho motho ea nang le Down's syndrome ho ea ho e mong, ho na le litšobotsi tse ling tse tloaelehileng 'meleng le kelellong.
Bofokoli ba kelello ke ntho e sa khaotseng, leha e ka ba e tšoauoa ho tloha ho motho ho ea ho e mong. Ho boetse ho na le matšoao a 'mele: hlooho e nyane le e chitja, molala o monyane le o sephara, mahlo a bulehileng haholo, strabismus, motso o sa hlakang oa nko, matsoho a boreleli le menoana e mekgutshwane ... mathata a tsoalo ka linako tse ling e ka eketsoa matšoaong ana, 'me a hloka tlhahlobo e pharaletseng ea bongaka: pelo, leihlo, tšilo ea lijo, mathata a masapo ...
Ho sebetsana hantle le mathata ana le ho fokotsa kholofalo ea 'mele le ea kelello, tlhokomelo ea li-multidisciplinary bakeng sa batho ba nang le Down's syndrome : litsebi tsa liphatsa tsa lefutso, litsebi tsa psychomotor therapists, physiotherapist, litsebi tsa puo ...
- Trisomy 13, kapa Patau's syndrome
Trisomy 13 e bakoa ke ho ba teng ha karolo ea boraro chromosome 13. Setsebi sa liphatsa tsa lefutso sa Amerika Klaus Patau ke eena oa pele oa ho e hlalosa, ka 1960. Ketsahalo ea eona e hakanngoa pakeng tsa 1 / 8 le 000 / 1 tsoalo. Bothata bona ba liphatsa tsa lefutso ka bomalimabe bo na le litlamorao tse tebileng bakeng sa lesea le ka pōpelong: ho fokola ho matla ha boko le pelo, ho haella ha mahlo, ho se sebetse hantle ha skeleton le tsamaiso ea tšilo ea lijo…. Bongata bo boholo (hoo e ka bang 15-000%) ea masea a amehileng a shoa ka utero. Mme le haeba a ka phela, lesea le nang le Down's syndrome le pholohile tebello ya bophelo e tlase haholo, likhoeli tse 'maloa ho ea ho lilemo tse' maloa ho itšetlehile ka ho se sebetse hantle, haholo-holo ha ho etsoa mosaicism (li-genotype tse fapaneng li teng).
- Trisomy 18, kapa lefu la Edwards
Trisomy 18 e bontša, joalokaha lebitso la eona le bolela, boteng ba chromosome e eketsehileng e 18. Phapang ena ea liphatsa tsa lefutso e qalile ho hlalosoa ka 1960 ke setsebi sa lefutso sa Lenyesemane John H. Edwards. Ho hakanngoa hore ho na le trisomy ena ho tsoalo ea 1/6 ho isa ho 000/1. Ho 18% ea linyeoe, trisomy 95 e fella ka lefu ka utero, e tiisetsa sebaka sa Orphanet, portal bakeng sa mafu a sa tloaelehang. Ka lebaka la mathata a tebileng a pelo, methapo ea kutlo, tšilo ea lijo kapa esita le renal, masea a sa tsoa tsoaloa a nang le trisomy 18 ka kakaretso a shoa nakong ea selemo sa pele sa bophelo. Ka mosaic kapa translocation trisomy 18, tebello ea bophelo e kholoanyane, empa ha e fete motho e moholo.
- Down's syndrome e amang li-chromosome tsa thobalano
Kaha trisomy e hlalosoa ke boteng ba chromosome e eketsehileng karyotype, li-chromosome tsohle li ka ameha, ho akarelletsa le li-chromosome tsa thobalano. Hape ho na le li-trisomies tse amang para ea X kapa XY chromosomes. Litlamorao tse kholo tsa li-trisomies tsena ke ho ama mesebetsi e amanang le li-chromosome tsa thobalano, haholoholo maemo a lihomone tsa thobalano le litho tsa botona.
Ho na le mefuta e meraro ea trisomy ea thobalano ea chromosome:
- trisomy X, kapa triple X syndrome, ha motho a e-na le li-chromosome tse tharo tsa X. Ngoana ea nang le trisomy ena ke mosali, 'me ha a hlahise mathata leha e le afe a maholo a bophelo bo botle. Bothata bona ba lefutso hangata bo etsahala e fumanweng boholeng, nakong ya ditlhahlobo tse tebileng.
- Klinefelter syndrome, kapa XXY trisomy : Motho o na le li-chromosome tse peli tsa X le chromosome ea Y e le 'ngoe. Motho ka kakaretso ke monna, le nyopa. Trisomy ena e baka mathata a bophelo bo botle, empa ha e na bokooa bo boholo.
- Jacob's syndrome, kapa trisomy 47-XYY : boteng ba li-chromosome tse peli tsa Y le X chromosome e le 'ngoe. Motho ka mong ke monna. Phapang ena ea lefutso ha e bake ha ho na matšoao a hlahang e kholo, e atisa ho hlokomeloa ho motho e moholo, nakong ea karyotype e etsoang ka morero o mong.
Ha ho na matšoao, liphatsa tsena tsa lefutso tse mabapi le li-chromosome tsa X le Y ha li fumanehe ka seoelo. ka popelong.
Ka lehlakoreng le leng, li-trisomies tse ling kaofela (trisomy 8, 13, 16, 18, 21, 22 ...), haeba ba sa ka tlhaho ho fella ka ho senyeheloa ke mpa, hangata ho belaelloa ka ultrasound, ho fanoa ka ho lieha ho hōla, ho sebelisa nuchal translucency measurement, trophoblast biopsy, kapa 'an amniocentesis, ho etsa karyotype tabeng ea ho belaelloa hore ke trisomy. Haeba trisomy e holofatsang e netefalitsoe, ho felisoa ha bokhachane ho hlahisoa ke sehlopha sa bongaka.