Ulula X Syndrome: nemiqondiso, iimpawu kunye irejimeni yonyango

Uphuhliso yangoku olukhawulezileyo amayeza iye ukuba uluntu ukuvula ezininzi izifo ngaphambili ayaziwa. Okubaluleke kakhulu kwinkulungwane yamashumi amabini ladlala umbhalo we ikhowudi yezofuzo, nto leyo eyenza kube lula ukubona oonobangela ukungaqheleki ezininzi yemfuza chromosomal. Kukho izifo ngaphezulu kwama-3000 ezinxulumene utshintsho ubuninzi nobulunga kwi impahla yemfuza. Isifo entsha ulula X Syndrome, nto leyo eye ipesenti olude ophezulu yokukhubazeka komntwana.

isifo Martin Bella - a syndrome okanye ukuphazamiseka luvo?

Ulula X Syndrome - ukungaqheleki iziphene ezinxulumene ubu we-X chromosome. Le mbono "ubu" libhekisela exineneyo kabukhali ekupheleni olubonakalayo lwe X chromosome. Olunjalo utshintsho kuqinisekisa ethe X Syndrome. Amafoto abantwana ngasekhohlo ibonisa ongekenziwa uphuhliso lengqondo, okwakha ukuqhubela ukuqalela kwimfundo yabantwana yasekuqaleni.

izizathu

Njengoko yaziwa, loo kweejini womntu KULUNGILE - oko zofuzo 46, ezimbini apho - i sex X kunye Y. Kwabasetyhini, ngokulandelelana, i iseti chromosome iza kukhangeleka ngathi - 46 XX, namadoda - 46 hu. Ezi abathwali ulwazi yemfuza ibandakanya chain acid asidi kophindo, leyo wabeka ulwazi malunga nesakhiwo kunye nemisebenzi ikamva a esiphilayo.

Ukugula Martin Bella (ethe X-chromosome) iphuhlise ngenxa yotshintsho kwi X chromosome, ngoko sinokuba buhlungu bobabini abasetyhini kunye namadoda. Olindelwe inxenye X- chromosome ngenxa yokwanda zophendlo lwezifo kwi iintsalela ezithile acid asidi uphinda - cytosine-guanine-guanine (C-G-T). Le yindibaniselwano nabameli apho izihlandlo eziliqela kwezinye imfuza, kodwa kubalulekile, eneneni, inani kophindo. Ngokuqhelekileyo oku isusela ukusuka 29 ukuya 31. Kwimeko Martin-Bell Syndrome loo xabiso okwanda kwaye nazo ukususela kumaxesha 230 ukuya-4000, nto leyo ekhokelela ekubeni ukwanda chromosome futhi isakhi ezithile ekusebenzeni kakuhle - FMR1, nenoxanduva ukusebenza oluchanekileyo kunye nophuhliso novalo system. Isiphumo kubonakala emva kwexesha elifutshane emva kokuzalwa kwaye lubonakala lengqondo yokudodobala.

ibonisa ongakhetha

Inani kophindo cytosine-guanine-guanine ebangela embodiments ezahlukeneyo lokugula lwezonyango Martin-Bell. Le syndrome inokuba ngeendlela ezifihlakeleyo. Ukuba uhlolisiso lubonisa uphinda-55 ukuya 200, premutation kukho - utshintsho lwemida ezenza umntu abe carrier, kodwa ngaphandle ukuba intshintsho zibonakale-luvo. Xa yobudala oqolileyo nabakhulileyo ukuphuhlisa syndrome ataxic yaye ukusilela eziziiprayimari ovarian kwabasetyhini. Amathuba ukudluliselwa lesi sifo eliphezulu. Iimali Ikwanceda karhulumente eliphakathi - 40 ukuya kuma-60 uphinda nucleotide, nto leyo ngokwezonyango kubonakaliswa ifa angavela kwisithuba izizukulwana ezimbalwa.

neyomthetho

Genetics athwale isifo kwiqela ezimbi, sex-ezinxulumene, oko kukuthi, kunye X chromosome. Xa abantu, esi sifo kubonakala ngakumbi nangakumbi ngokucacileyo, njengoko kweejini yabo iqulethe enye X chromosome. Women ngezifo senzeka kwimeko zombini "yezifo" X-autosomes. kunqabile kakhulu, amadoda premutatsionny ukhetho kunye othwala. AbaseTyhini kakhulu kunokwenzeka ngakumbi ukwenza ulawulo kumda wesangqa, kunye yokupasa chromosome "yezifo" kunye amathuba alinganayo ukuze zombini iintombi noonyana ukuba. uyihlo uyagula basenokugqithisela X-chromosome neentombi kuphela. ngcembe Ilifa syndrome kwandisa ukusuka kwisizukulwana ukuya kwisizukulwana, leyo eyaziwa ngokuba Sherman kephofu. Ikhondo kwezonyango syndrome yesimathane inzima kakhulu ngaphezu koko babantu.

iimpawu

Ulula X Syndrome, iimpawu zazo Autism, akusoloko ixesha ukubona noba i wabantwana onamava okanye luvo.

Lo mfanekiso kwezonyango inokwahluka ngokuxhomekeke kwinani kophindo lwe C-hHIyure.

Xa version zakudala lengqondo yokudodobala ibonisa ethe X enokubakho Syndrome. Photo umntwana sikuvumela ukuba ubone imiqondiso yokuqala iimpawu zesi sifo. Kukho isiphithiphithi kunye discoordination iintshukumo, buthathaka kwezihlunu kuphuhliswa. Kaninzi, abantwana ubunzima ngenxa Autism. Ngosuku loviwo, emine utyhila uphazamiseko kwi-luvo oculomotor , yaye ezinye ezinxaxhileyo engqondweni. Nge ubudala, isimo kuxhotyiwe, ngokuthe ngcembe ukwandisa indlela yokudodobala kwengqondo.

Soloko ukuphazamiseka kwengqondo abakhoyo: ngumntwana endaba, ibonisa unmotivated grimaces udla uqhwaba izandla zakhe, maxa wambi uziphatha ngolona hlobo. Iimpawu ezinjalo ngandlel efanayo sengqondo. Enye indlela Autism, nto leyo eyaqala ukuvela ebuntwaneni ekuqaleni.

Ulula X Syndrome: iimpawu

A inkalo ethile ye wabafana ukunyusa ubungakanani amasende (makroorhizm), kodwa kungabonwa kuphela ukufikisa. Kulo mzekelo, nayiphi na yonyango disorder bengekho.

Ukutshintsha imbonakalo azidingi non-ngqo, kodwa ajongane ugqirha ukuze ufumane uxilongo ekunene. Lo mntwana rhoqo nentloko enkulu, ubuso elide kunye nencam egosogoso kancinane rostral impumlo. Kukho ziziinkalo ezinkulu neenzwane, iminwe kufuneka uluhlu ukwanda kakhulu sentshukumo. Ngokufuthi, isikhumba a okubuyela kwimo ephezulu.

Obubonakala premutatsionnogo okufana sifo aneempawu ezithile. Kuba syndrome Ataxia esibonakala nongcangcazelo kunye nememori kakuhle, ingakumbi elifutshane, kukho utshintsho imo kunye nophuhliso chu sengqondo esixhalabisayo kunye nokwehla imisebenzi cognitive (kukungakwazi ukufunda nokuqonda intetho). Symptomatology iphuhlisa njalo ngakumbi othwala madoda kwaye ikhondo kakhulu ngaphezu abafazi.

ukusilela Primary ovarian luphawulwa imbonakalo exesheni ngaphambi kwexesha ukuphazamisa ukusebenza kwenkqubo, "lo yebhinqa-ovarian". Content kwandisa follicle oluvuselela hormone, ekhokelela senkangeleko yokuduka iimpawu sexesheni kwezityalo. Isifo siqhubela phambili ngokuthe ngcembe yaye ifuna hormone therapy replacement.

Indlela ukuhlola syndrome

Kuba ukuzimisela elisondeleyo sifo nisaqala umntwana indlela efanelekileyo cytogenetic. Oku kwenzeka uthango nomonde izinto iseli kwaye kongezelelwa vitamin V₁₀ (folic acid) njenge utshintsho provocateur in zofuzo. Emva kwexesha elithile, uphando lubonisa ukuba chromosome kunye ukuxozwa ebonakalayo, ebonisa ukuba isifo Martin-Bell, ethe-X syndrome. Le ndlela yoviwo laboratory olungachanekanga ngokwaneleyo kumanqanaba kamva, ngenxa yokusetyenziswa kakhulu iimalthivithamini, eziquka folic acid.

Kuyinto kakhulu ezithile polymerase chain reaction (PCR), nto leyo evumela ukuba izakhi ulwakhiwo kumsi acid acid kwi X chromosome kwaye ubonise ezonakala X Syndrome. Amafoto ezenziwe yi-kwemikroskopu, ibonisa kwisiza olindelwe autosomes.

A eyahlukileyo, ngobuwena ngakumbi nezikhethekileyo yindibaniselwano ye-PCR kunye ekufumanekeni kwi capillary electrophoresis. Olu vavanyo ibhaqa ngokuchanileyo ukungaqheleki chromosome kwizigulane kunye syndrome ataxic kunye insufficiency lokuqala ovarian.

unyango

Emva kokuba PCR, kwaye lokufunyaniswa 'ethe X Syndrome ", kufuneka ziqale ngokukhawuleza kangangoko kunokwenzeka unyango.

Ekubeni esi sifo naso kwaye imvelaphi chromosomal, unyango kuyehla ukuze kudanjiswe iimpawu eziphambili zesi sifo.

scheme therapeutic ejoliswe ekwenzeni mbalwa obubonakala lengqondo abazizidalwa, utshintsho ukumlungisa syndrome ataxic kunye nenkxaso kwamadlala ngokusilela yokuqala ovarian.

Abantwana kunye ukukhubazeka engqondweni kwaye ngenxa be PCR ixilonge 'zibuthathaka X Syndrome ". Russia akanayo izibonelelo zonyango, apho kwimo aba bantwana, ngoko ke unyango ibe wabantwana kunye neengcali ezinxulumene. Ngoko nangoko kufanele kuqatshelwe ukuba unyango yabantwana ngempumelelo ngaphezu abadala. Ubuchule iiseshoni cognitive unyango yokuziphatha kunye zengqondo qho ngamnye, umthambo, iintlobo ukukhanya mziba. A umkhwa entsha kukusetyenziswa ngamalungiselelo ngokusekelwe folic acid, kodwa iziphumo ezikude efunda.

unyango lwezempilo omdala kuquka mziba kunye lakhula, ibanjwa esweni rhoqo tshintshayo yi kwengqondo kunye kwengqondo. Kwiiklinikhi zabucala ukuphumeza ukulungiselela iiseshoni microinjection "Cere" kunye nezakhi zayo, cytomedines (amayeza "Lidaza", "Solkoseril").

Xa nootropics kusetyenziswa ataxic syndrome negazi ithinasi, angioprotectors kunye nemixube ye asidi acid. ukusilela ovarian Primary kwabasetyhini estrogen kunye amayeza esintu kuxhomekeke ukulungiswa.

Nokulunga unyango liphantsi kakhulu, kodwa livumela ukuba ezinye ixesha isantya phantsi ukuqhubela phambili kwesifo.

ukuvimbela

Indlela kuphela Ukuthintela ukuhluza abasetyhini abakhulelweyo. Xa kuphuhliswa
amazwe laqalisa uphando zokuva ethe X Syndrome kusekwangoko kwaye ukuphelisa ukukhulelwa. Isixhobo esisesinye ngobuwena is in vitro, nto leyo igalelo ekuqinisekiseni ukuba umntwana ilifa ikamva 'uphilile "X chromosome.