Pūira tāpiri i roto i te tangata. abnormalities pūira

Ko te tinana tangata - ko te pūnaha multidimensional matatini, e whakahaerehia ana i ngā taumata rerekē. Ki taea okana me ngā pūtau mahi i roto i te wa e tika ana, i roto i ngā tukanga matüora motuhake me whai wāhi etahi matū. Me whiwhi tēnei he turanga totoka, e ko, te tuku tika o te waehere ira. Ko reira mana tūturu rauemi ira te whanaketanga o te ira.

Heoi, i te huringa mōhiohio iranga ētahi wā puta e kitea i roto i rōpū nui ana ki te ira takitahi ranei. E huaina taua hapa irakētanga o ira. I roto i ētahi wā, e pā ana tenei raruraru e ki te wae hanganga o ngā pūtau, e te mea ki pūira katoa. Fakatatau ki ai, i roto i tenei take, ka karanga te hapa ko pūira irakētanga.

tikanga kei roto ia pūtau tangata nga taua maha o ngā pūira. E piri ratou e te taua ira. Ko te huinga katoa o te 23 i roto i te pūtau iroriki takirua o pūira, engari iti iho i te 2 ngā wā. Ko e tika ana ki te meka e kia tohu i kikiritanga hononga o te parāoa me te hua ngā pūtau he huinga tonu o nga ira e tika ana katoa tenei. e kore e ratou tohatoha puta matapōkeretia, a i roto i tino etahi tikanga, ki te raupapa rārangi ko rite te taua hoki te iwi katoa.

ngā irakētanga pūira whai wāhi ki te huringa i roto i to ratou maha me te hanganga. Ko te kupu, i reira kia kia anō pūira ranei, hei kōrero, ka kia ngaro ratou. Tenei tāne i kia meinga materoto whai wāhi ki te ahua o disorders pūira ranei.

Types o ngā pūira me ratou abnormalities

Pūira - he kawe o te mōhiohio ā-ira i roto i te pūtau. tohu te reira i rua i te rāpoi ngota pītauira i roto i matatini ki histones. Hanga e wahi i roto i pūira prophase (mō te wā wehenga pūtau). Heoi, i roto i te metaphase māmā ratou ki ako. E tito pūira o rua chromatids hono e te constriction tuatahi kei i te ao pūtau. constriction Paraimere tuwhatuwhaia pūira 2 whakaaro te roa taua rerekē ranei.

Ko nga momo e whai ake nei o pūira:

• metacentric - ki ringa o te roa rite;
• submetacentric - ki ringa o te roa taurite;
• acrocentric (tokotoko) - kotahi poto me te tahi atu pokohiwi roa.

He āhua nui, me te iti kōhikohiko. tikanga rangahau tēnā i runga i te tautuhinga. e kore e taea ētahi kitea ki te karu. I roto i ngā take pēnei i, te whakamahi i te tikanga pārōnaki poke, engari anake ka tatau te wahi pānga kei roto i miriona o nucleotides. Anake i te haamauraa i te raupapa nucleotide taea kitea irakētanga iti. hua te maumaui nui i roto i te pānga korerotia i runga i te tinana tangata.

I roto i te ngaro o tetahi pīari pūira i huaina monosomy. pūira tāpiri i roto i te tinana - tātoru.

mate pūira

mate pūira - mate ira e puta rite ki te hua o te pūira pīari. whakatika ratou e tika ana ki ngā rerekētanga i roto i te maha o ngā pūira rearrangements nui ranei

I tawhiti ano te rongoā i te taumata o te whanaketanga o nāianei, i whakapono ai e kua 48 pūira i te tangata. Ko anake i roto i te 1956 whakahaere ratou ki te tātai tika tatau i, me te tautuhi i te hononga i waenganui i te pakaru o te maha o ngā pūira me etahi mate tuku.

3 tau i muri mai, te pūtaiao Wīwī J. Lejeune, i kitea ai e te pā tika te ofatiraa o te iwi o te whanaketanga hinengaro, me te ātete ki te mate ki te irakētanga genomic. Ko reira e pā ana ki te pūira anō 21. Ko ia tetahi o te iti rawa, engari kei te hāngai te reira i te tau nui o ira. kitea pūira anō i roto i te 1 i roto i o 1,000 hou. Tenei mate pūira ko e tawhiti te tino ako, ka mohiotia rite Down syndrome.

I roto i te taua 1959 i ako ai, ka kï e te aroaro o tane pūira X anō arata'i ki te mate o Klinefelter i roto i nei mamae te tangata i te retardation hinengaro me te pākoko.

Heoi, ahakoa te meka e kua kitea abnormalities pūira me te ako mo te wa roa, e kore e taea ki te hamani mate ira ara rongoā hou. Otiia kaua hou tikanga o te tātaritanga taua irakētanga.

Take o te pūira anō

Ko te Pākatokato Ko anake te take mo te putanga o te pūira 47 hei utu o nga Tohunga 46. i roto i te mara o te rongoā kua kï e te take tuatahi o te pūira anō - te tau o te whaea expectant. Ko te tuakana te hapu, te nui te tūponotanga o te nondisjunction. Just hoki tenei take, e tohutohu wahine ki te hoatu whanau ki te 35 tau. I roto i te take o te hapūtanga i muri kia hipoki te tīmatanga o tenei ao.

Ko te āhuatanga e whai wāhi ki te putanga o te pūira anō, ngā te taumata o ngā kōhikohiko nui haere i roto i te ao katoa, te tohu o te poke taiao, me te ake.

Kei te whakapono te reira e puta te pūira anō ki te i koe i roto i te wā ahua rite. Ko te he pūrākau tika: Kua whakaaturia ngā e mau metua nei tamariki mamae i pūira mate he karyotype maitai hauora.

Tātaritanga o te toro i te tamaiti ki te pīari pūira

Whakaaetanga o maumaui o nga pūira, ka karanga āta aneuploidy, tāutu te hē kukune toenga ranei o pūira. wahine hapu pakeke atu i te 35 nga tau e waha i te tikanga o te whiwhi i te tauira o te waikahu. Ki te kitea e tatou he takahi o te karyotype, ka hiahia te whaea expectant ki te whakamutu i te hapūtanga, rite whanau te tamaiti i ka tukua e ora katoa te mate nui ki kahore he maimoatanga whai hua.

pūira Tūkinotanga te tikanga kua he takenga whaea, Heoi kia titiro kore pūtau fetal anake, engari ano hoki matū e kua hanga e i roto i te maoa. huaina ana tēnei tukanga ko te tātaritanga o ngā ira mate o te tinana poara.

syndrome o Raro

whakaahuatia tuatahi Scientists Mongolism ko Raro. Kua pūira tāpiri, te ira mate i roto i te aroaro e hiahiatia ana o nei ki te whakawhanake i, kua ako ngā. A, no te puta Mongolism i pūira 21 tātoru. Ko te tangata e mate ana hei utu o te 46 tahuri 47 pūira. Ko te āhuatanga matua - te takamuri i roto i te whanaketanga.

Kei te kite ngā tamariki e whai i te aroaro o te pūira anō, ite mau fifi nui rauemi i roto i ngā kura akoranga, na e hiahia ana ratou he tikanga o te ako kē. I tua atu ki te hinengaro, i reira te mea he ine, me te whanaketanga tinana, ara: kanohi te wakapū, mata papatahi, ngutu whanui, arero flat, poroa atu ranei wahi me waewae, he rahi te hui o te kiri i roto i te rohe kaki. Life tümanako i runga i toharite ko te 50 tau.

syndrome Patau

Reira pā ana hoki tātoru Patau syndrome, i roto i nei i reira ko te toru kape o pūira 13. He āhuatanga motuhake ko te tauwhatinga o te pūnaha io pokapū tona underdevelopment ranei. E kitea tūroro malformations maha, tae atu ka taea mate congenital o te ngakau. Neke atu i te 90% o te iwi ki te syndrome o Patau mate i te tuatahi o nga tau o te ora.

Edwards syndrome

Tenei Pākatokato, rite te hunga mua, e pā ana ki te tātoru. I roto i tenei take e korero tatou e pā ana ki te pūira 18. Edwards syndrome āhuatanga e ngā disorders. Fele, whakaatu tūroro wheua deformation, te āhua taui o te angaanga, raruraru ki te pūnaha romahā me te Cardiovascular. Life tümanako Ko te tikanga e pā ana ki te 3 marama, engari ora ake etahi pēpi ki te tau.

mate endocrine ki abnormalities pūira

I tua atu ki enei syndromes, abnormalities pūira, i reira he ētahi atu i roto i nei i reira ko ano te Pākatokato tau, me te hanganga. Taua mate ngā:

1. Triploids - he mate onge pūira i roto i nei to ratou maha aratau ko te tikanga mutu 69. Pregnancy materoto wawe, engari te ora o te tamaiti e kore e ora atu i te 5 marama, i reira e maha hē whanau.
2. Ko hoki tetahi o nga abnormalities pūira onge, e whakawhanake tika ki te mukunga o te mutunga distal o te ringa poto o te pūira - Wolf-Hirschhorn syndrome. He wāhi tino o tenei mate ko 16.3 runga pūira 4p. tohu angamaheni i - raruraru i roto i te whanaketanga, te retardation tupu, haurangi, me angamaheni āhuatanga kanohi
3. Prader-Monika syndrome - te mate, ko te tino onge. A, no te kore e mahi taua pūira anomalous 7 ira wahi o 15 pūira pāpā ranei, mukua ranei. Tags: scoliosis, strabismus, te hekenga whanaketanga tinana, me te hinengaro, te rohirohi.

Me pēhea te ki te whakaara i te tamaiti ki te mate pūira?

Hei whakaara i te tamaiti ki te mate pūira congenital kore he ngāwari. I roto i te tikanga ki te hanga i tou ora māmā, me aru etahi ture. Tuatahi, kia hinga tonu reira hepohepo, me te wehi. Tuarua, e kore e hiahia ana ki te noho wa rapu mo te kaiwero, e kore e tīari reira. Tuatoru, he mea nui ki te whakatau i runga i te ahua o te āwhina e hiahiatia ana ki te tamaiti me te whānau, me ka ki tahuri ki tohunga mo te āwhina hauora, hinengaro, me te mātauranga.

I te tuatahi o nga tau o te ora tātaritanga Ko te tino nui, pera whakawhanakehia te mahi pūkaha kei roto i tenei wā. Ki te awhina o ngaio i roto i te tamaiti hohoro whiwhi pūkenga nekeneke. He mea tika ki tautika titiro te tamaiti i roto i te māuiuitanga o te titiro me te whakarongo. Ano, kia te tamaiti kia kitea e te tākuta tamariki, tafe'anga me neuropsychiatrist.

E akiakitia ana ngā mātua ki te tomo ki te rōpū motuhake ki te riro tohutohu mahi tino i te iwi e kua hinga tenei āhuatanga me e rite ki te faaite.

Media pūira anō te tikanga hoa, te ngāwari reira ki te whakaara, me ia rite ona pai ki te riro i te whakaae o te pakeke. Ka whakawhirinaki te taumata o te whanaketanga o te tamaiti motuhake i runga i te āhua o pakeke ka waiho reira ki te whakaako i ngā pūkenga taketake. tamariki mate, ahakoa ërä i muri nga etahi, engari e rapu ratou he rota o te whakarongo. Ko reira tika tonu ki te akiaki i motuhake o te tamaiti. Ua haapii whaiaro pehea ki te kia i te tauira, a ka kore e te hua tatari roa.

E hua ana tamariki ki disorders pūira ki taranata motuhake nei whäkina te. i taea e te reira i te mau haapiiraa waiata tuhi ranei. He mea nui ki te whakawhanake i tō pēpi, te tākaro kēmu mātātoa, me te whakawhanake i ngā pūkenga nekeneke, pānui, ka taunga ki te tikanga me te tika. Ki te ki te tamaiti faaite katoa aroha toku, tiaki, whakarongo, me te aroha, ka whakautu ia i roto i te ahua.

He reira he rongoa?

Ki te rā, e kore e taea te ora te mate pūira; He whakamātautau ia tikanga e whakaarohia ana, engari e kore kua ratou miramira haumanu kua mohiotia. Hanga te ahunga whakamua i roto i te whanaketanga o te whakawhanaunga me te hopu o ngā pūkenga āwhina āwhina nahanaha hauora me te mātauranga.

Me i nga wa katoa kia kite i te tamaiti e mate ana i te tohunga rite rongoa ka haere ki te taumata i te mea e taea ki te whakarato i te taputapu e tika ana, me te ngā momo o te therapy. te tono hoki ngā kaiako huarahi hou i roto i te whakaako me te whakanohonoho o te tamaiti.