Monosomy - he aha te mea tenei?

Ko te hanganga ira o te takirua pūira tangata tautuhitia 23 te, e rerekē i roto i te āhua me te rahi. Ko te pūira nui rawa 1. reira nui te rahi o te pūira 22 Ko tata 4 wā. 23 he rua - he X pūira me te Y. whakatau ratou te takoto o te iwi. I roto i nga wahine 23 Kei te rua o te 2 pūira X, whakaritea te rua te XX. I roto i te tangata, 23 ngā o te rua o ngā pūira X me Y, i.e., - he rua o XY.

A, no te hanga e te kukune te, kua reira rite ano kahore tohu o te tangata, engari 23 o pūira takirua whakatau ko kē te takoto o te heke mai i te tamaiti i roto i te kōpū o te whaea i mua nei. E huaina mua 22 takirua autosomes. Ka whakarite ratou te whanaketanga o whekau katoa me te kopa o te tamaiti.

Pākoko rite te monosomy tohu

Ka taea e sterility Wahine hei te hua o ngā pathologies. I roto i te take o te ofatiraa o te hanganga o 23 o pūira takirua, kua whakatakotoria ki te aroaro whanau, ka ko te whaea pea ia i roto i te āhua o te ira i roto i te kopu.

Ki te te rua o nga rua tekau ngaro tetahi pūira X, kua pakaru reira ranei, taua pīari huaina monosomy X. pākoko - tetahi o nga tohu tino whakakitenga o te monosomy X. rangahau rongoā Modern pehea tohu o tenei mate, me ngā huarahi ki te hamani i te reira.

He aha te mea te reira?

Monosomy - tenei ine, ko muri i te pūtaiao e kitea taua mea ki Turner syndrome. Ko tenei mate ira anake i roto i ngā kōtiro. E ai ki a ia tatauranga whakaatu e pā ana ki te 1 i roto i te 2500 te wā.

I te kau, ki te whanaketanga o te rongoā ārai Turner syndrome e taea. Girls ki tenei mate e taea te arahi i te ora noa, engari e hiahia ana ratou te tirotiro hauora, no te mea ratou e taea te whakawhanake pōauautanga.

Ētahi atu tohu monosomy

Whakakitea e ngā kōtiro i te syndrome tupono monosomy i roto i te tamarikitanga ai hei nga tohu e whai ake nei o te mate:

• I roto i te kōhungahunga pupuhi kakau me waewae.
• Baby muri hi'o i runga i te tupu.
• Ngao i roto i enei kōtiro he ki runga ake i te tamaiti toharite, me ripa i raro.
• Tūroro kotiro ahu ki typesetting taumaha.
• He he maha flat.
• whakairi nga kamo iti i runga i ona kanohi.
• Strabismus.
• poroa te kaki te.
• He he he wāhanga huruhuru te tinana tinana.
• ringa poroa.

I tua atu ki enei mate, kotiro taiohi, e taea te tāutuhia:

• mate Heart (nesmykaemost taiepa takirere).
• Tērā i te tīmatanga o te pūhuruhurutanga.
• Rongo raruraru.
• pēhanga toutou tiketike toto (takawhita).
• mate tamau e pā ana ki mate i roto i te taringa.
• kanohi maroke.
• Tūkinotanga o tūranga, tae noa ki te scoliosis.

I roto i ngā o te whanaketanga fakasekisualé kite:

• Disproportionality o te taihemahema waho.
• u taramore.
• Ko te kore o te makawe tinana i raro i nga peke, me te runga ake te puke.
• underdevelopment uterine.
• Ko te ngaro hohekore o te ovaries ranei.
• taumata iti o hormones wahine.
• Paheketanga passivity, tae noa ki te kore o te paheketanga.

Ko te uaua tautuhinga mo nga tohu o te tātaritanga ko e kia kitea te taua tohu i roto i te tahi atu mate. Ki te whai ratou he kotiro o tetahi tau, he mea e tika ana ki te tika te tirohanga i roto i te whare hauora.

Ko tētahi o nga āhuatanga āhuatanga monosomy o pūira sex he kiri te taikaha i te taha o te kaki, i hanga te puninga roa.

Take o te monosomy

I tenei wā o te whanaketanga o te pūtaiao e kore i taea e whakapumautia te take o te taipitopito monosomy kukune. He aha te mohiotia hoki tino - e kore māuiuitanga e pā ana ki whakapapa. Ko te mana matua i runga i te takanga o te mate i roto i te pūtau te kukune ngā ira mate sex o papa a tawhio haputanga. Ko te monosomy take matua tenei.

Ki te mea kua oti ira o te papa i te irakētanga e puta huringa o te hanganga o te pūira X, te tamaiti - he kotiro, rawa, e taea te pakaru e 23 o pūira takirua. Ko Me kï reira e i roto i te utuafare i taua ki te hoatu ki runga i runga i he tamariki e kore e he utu reira. Ko te papa ki te ofatiraa o te X-pūira he haputanga rawa pea, me te whanau o te tamaiti hauora ko reira.

Aha e monosomy o te pūira X? E ako ana te take o tenei mate, engari i tenei wā o te rongoā e taea te mea i te whai ake:

• e kore te monosomy takanga i roto i te kukune e pā ana ki ngā āhuatanga kino waho.
• e kore te ana tēnei māuiuitanga riro. Kore, e tiki i te reira i te kotiro katoa i roto i te papa ira-whara te utuafare.
• Ko te take tino pea o Turner syndrome - te pānga o ngā āhuatanga kino i runga i te pūtau takoto o tona papa tata i mua i haputanga.
• I roto i te wehenga o te whakatō kākano, me te tahuri i te reira ki te kukune kia puta malfunctions, e meinga te mosaic-momo monosomy.

tātaritanga o te mate

kua ki monosomy o te pūira i roto i te kukune kua kingi i, tae noa ki te aroaro o ki te whanau i-mōrearea wahine hanga he whakamātautau ira motuhake. Tenei rangahau - prenatal tātaritanga ira - ngā ultrasound whakamātautau, he unuhanga o uaua, me te kiri o te hua, he whakamātautau taiwhanga toto.

whakamātautau nui pērā whakatakoto te tākuta, ka tae mai te reira ki taua, waiho i te hua ranei whakamutu i te hapūtanga. Na reira, kei te whakahaerea e ratou i roto i te 3 marama tuatahi o te hapūtanga. Ko, ki te kahore te hapu e whakatau i te take, e kore ai e he tamaiti ranei, e kore e te rangahau i whakaritea.

kia tūtohu te tākuta whakamātautau ira ki te monosomy o pūira 21 i waho, ki te:

• whaea expectant i runga i 35 tau.
• Ko te hapu o te māuiuitanga tuku i kitea ai hapu.
• I roto i te utuafare, i reira kua take o pakarukaru (he pakarukaru) X pūira.
• Māharahara o hemoglobinopathies.
• Māharahara o raro syndrome i roto i te tamaiti, me te tahi atu e pā ana ki te whakapapa, āhuatanga kino.

A, no te e te tātaritanga ki pūkete taua mea e kore e kawea ki te rangahau kino ki te hauora o te whaea tamaiti ranei, e kore e hua i te reira i roto i te mate o te kukune. Doctors whakahaere tātaritanga kua hiahiatia ki te kia tino tohu mo te hanga o te rangahau o te tātaritanga.

I mua me amohia e te wahine whakamātautau ira te whakamätautau āta i te rata mātai i roto i tona whare hauora, faaoti te tākuta mehemea hapu i mōrearea pā, arā. E., ahakoa i reira ko te tūponotanga ka e ka puta te kukune monosomy syndrome. Anake i muri i whakahaua he whakahoki pai ki tenei pātai i te whakamātautau ira hapu.

I roto i te tātaritanga prenatal, i reira e te tahi atu tikanga - he poka o kiriuhi ki te whāinga o te tango i runga i te tātaritanga o waikahu, tauira toto i te uho, Fetoscopy. Ko te whakamutunga, ko te kupu whakataki o te uiuia me te therethrough whakamātautau fetal. Fetoscopy whakamahia rawa uaua, no te mea i te taumata hakari o te whanaketanga o ngā pūrere hauora, tenei tukanga pai whakakapi e te ultrasound.

Ki te kore i kitea te kukune i roto i te wa monosomy o te pūira X, me i reira ko tetahi māharahara o te tātaritanga i te tau torutoru i muri i te fanauraa, whakahaere te rangahau kei te kotiro te ara e whai ake nei:

• Tautuhia e te ngaro o te sex pūpūira.
• Whakaritea e te karyotype.
• Kia mau kōrero rata mātai tamaiti.
• Hanga US o kikokiko ā-.
• I te tau o te whakamātautau 9-10 tau toto mo hormones.
• Whakaritea e te X-hihi o ringa ki te whakatau i te whanaketanga o te wheua tau täkupu.

E ai ki te rangahau i te kōmihana motuhake kia hanga ai i runga i te whakatau hauātanga.

momo monosomy

Monosomy - he mate e taea kia o ngā momo rerekē. I te whanautanga o te kotiro i roto i te pūira tuarua rua XX, kia noho motu ai i toe. I whakaritea tēnei momo rite iranga 45H0. Enei kōtiro he ovaries tino ngaro taramore ranei me kōpū. Ratou pūhuruhurutanga kore e tango i te wahi. No pūira, e whakatau i te whanaketanga o ngā āhuatanga fakasekisualé Tuarua, fakasekisualé whēkau ratou me hormones e pā ana.

Ki te rua o te pūira i roto i te rua XX hakari, momo ira 46 XY. I roto i tenei take, ka whai i te kotiro i te kōpū, me ovaries, engari ka whai ratou i te hanganga fare, t. E. kore e waiho te reira taea ki te tuku kākano me te hapu i te tamaiti.

He nui atu mōrearea take ina te ngaro tetahi pūira i roto i takirua 1 - 22. huaina enei e nga autosomes. I roto i te whanaketanga tonu o te whakatō kākano i roto i ia pūtau 2 e tonoa ki pūira rerekē ona amo. Ki te hapa tetahi nga autosomes, kua tonoa mai te pou o te pūtau ki te pūira o nāianei anake. I tona pūruatanga ki te hauora, whiwhi i te whakatō kākano e ki te maha rerekē o pūira. arata'i tenei ki te mate fetal me te materoto māhorahora. Ki te he nui i te 1 atu te putanga paerewa te maha o ngā pūira, e kore ai he materoto tupu, engari ki te whanau he tamaiti e, taea ki te ora i te wa roa.

monosomy wāhanga

monosomy Motunga o pūira naianei ka hanga e, ai te rua o maui, me tetahi wāhi o te rua te pūira. Ko te take o te mate ko te whakatikatika hanganga o te pūira sex pūtau matua i roto i te wā tata ki te aroaro o haputanga. Ko te mau hopearaa o te mate whakawhirinaki i runga i te aha te huru o te pūira kiri whakangaromanga wāhanga.

Syndrome "tangi ngeru"

hanga te whakangaromanga o te wahi o te pūira 5 rua te syndrome o "tangi o ngeru." Paeoro tamaiti mate whāiti, wheua ngohe ngohengohe, hua i roto i te tangi pēpi rite te ngeru meowing.

Hoki tenei momo e āhuatanga hoki i te uaua flaccidity pēpi, mata pewa-āhua, te retardation hinengaro me te takamuri tinana i roto i te rite ki ō rātou hoa. Ko te tamaiti kitea hypoplasia angaanga, tūnga iti o te taringa, strabismus me te kanohi raruraru. Tikanga, mamae enei tamariki i mate ngakau. E ora ēnei tūroro roa - wā ki runga ki te 10 tau. Taua māuiuitanga kite i roto i te 1 i roto i o 45,000 take.

Wolf-Hirschhorn syndrome

Whaturama o tetahi pūira 4 takirua (Wolf-Hirschhorn syndrome) puta i roto i te 1 i roto i te 100 000. tamariki e whai monosomy o te pūira 4 takirua, maha whiwhi i roto i te mau metua vahine taitamariki me matua. Ko nui iti iho i te noa Birth taimaha - e pā ana ki 2 kg. I roto i nga kohungahunga, i reira te mea he roa faingataa whanaketanga me te nekeneke pūkenga tinana, me te hinengaro e te tino āta. mamae ratou underdevelopment o te angaanga.

Na roto i te taea to ratou ahua mōhio ihu whai ngutu, rae nui, taringa iti-piua atu, hipi ahopou i mua o te taringa. Ratou ano flaccidity uaua reira. Ratou e kore tata e huru ki akiaki waho. He haurangi peheé tamariki. Waho, kia whai ratou i te hanganga rerekē o kanohi, he mangai iti ki ngutu Hawaiki i te koki, waewae kopikopiko. mamae maha tamariki e mate ana i mate ngakau. mate tākihi Pāngia. Te nuinga o nga tamariki ki tenei pūira whakangaromanga e kore e ora ake ki te tau.

syndrome Orbeli

Whaturama o pūira 13 huaina te rua syndrome Orbely. whanau tamariki ki tenei ine ki te taimaha iti - ki runga ki te 2.2 kg. E ratou he mate o tata katoa whekau. underdeveloped ratou angaanga, piriti ngaro - rae huri tonu ki te ihu. Te ihu kua he whanui nui ake, he tiketike te rangi, nga taringa iti rawa. kitea te kohungahunga māuiuitanga o hypoplasia o te pūnaha musculoskeletal. Kahore kia kore hongere tūturu o te tōu me nono. E mea pinepine i reira he mate ngakau, mate tākihi, mate roro. Ēnei tamariki ahu ki Oligophrenic ratou haurangi whakamamae, ngaro maha ratou mahara. e kore e ngā pēpi ora ake ki te 1 tau.

Monosomy - Ko te mate rawa kino tenei, a ka kua whanau nga tamariki ki monosomy wāhanga tino onge. e kore e metua vahine expectant whai ki te whakarite ki te taua hui pouri.

Pōauautanga monosomy X

He nui ake pea i te iwi hauora ira Women ki monosomy X e pängia ana ki te tini o nga mate o nga whekau. kia kitea ratou e te tākuta, me te mamae whakamātautau wā hauora.

pōauautanga toutou he täkihi. Tūroro wahine maha puta mate hopuhopu o whekau urogenital, tano ore kei, e kore e tino whakawhanakehia whatukuhu.

Monosomy Ki te mea he wahi ki te waiho i te tangata, i te reira te tahi mau taime mamae i te repe thyroid, e hua iti taumata o hormones e hiahiatia ana e te tinana. Kei te ahi te repe thyroid, no te mea o te mea tupu me enei raru. Treatment ai anake kia tango rongoā, tautoko toenga noa hormonal. Me whakarite e ratou i te rata. e kore e whakaaetia whaiaro-rongoā.

E mate ana i Turner syndrome e pea ki te whakawhanake i mate celiac. Ua faaite tēnei māuiuitanga e i roto i te putanga o mate pāwera ki te pumuawiti pūmua. e kore e taea e tūroro e kai hua i hanga i te witi, me te parei.

Ka taea e fifi hoatu i tetahi monosomy. Mate e tahi monosomy kia rerekē, hei tauira, mate Cardiovascular. Women ki māuiuitanga e kitea te tika o te mafatu, e aru i te mana o to ratou haoraora me te ārai i te whanaketanga o te takawhita.

Mai tūroro ki Turner syndrome e pängia ana ki te mōmona, te ngongo ratou mate huka.

materoto ngaro

mate ira, tae atu monosomy kukune whakaaro te tetahi o nga take o te materoto ngaro. Ko tenei te mate o te kukune roto kopu o te whaea. Monosomy ka tupu te reira ki te 12 wiki o te hapūtanga. I te tahi taime te ora o te kukune ake - ki runga ki te 20 wiki. Ko tenei ati i roto i te ngaro o fetal kotahi pūira takirua 1-22, te pera-ka karanga tātoru. Monosomy Ko te take ki te arumanga āta o te hapūtanga.

E ngana ana ki te whakaora i te kukune ki te nui abnormalities whakawhanaketanga e kore e mea tika. mutu materoto ngaro i roto i te materoto. Taua mōrearea he wahine i runga i te tau o 35 - 40 tau, me te hunga kua tupu i mua nei i tenei.

kitea hoki te pūtaiao he whakaiti i roto i te tümanako ora o te wahine ki te monosomy, susceptibility ki atherosclerosis, te pukupuku.

maimoatanga monosomy

Monosomy - he māuiuitanga, e kore he Nireaha ki te maimoatanga e, engari pai akakoromaki i mau taote me ona mau hopearaa. Ko te ngako o te maimoatanga he e kowaiwai o hormonal ovaries ture tinana Me ture tāwhaiwhai. E tukinotia māuiuitanga o te whekau a hauora hāparapara ranei. maimoatanga matawhānui ngā:

• Supplementation taiki kōtiro i muri tonu tātaritanga.
• Na roto i te tau o te pūhuruhurutanga, tamariki hauora te mamae monosomy, whakahau hormones.
• Ko te hunga e hiahia ana ki te mau i te tamaiti hoki nga wahine ki te māuiuitanga āwhina rongoā uri - whakataki o te kaituku hua wairakau ki te atu kitea o te hapūtanga.
• Maimoatanga o pathologies o whekau ki taero hou me maimoatanga.
• āwhina Psychological ki nga wahine i roto i te tikanga ki te urutau ki te taiao pāpori, tango ki peculiarities pūkete o whaiaroaro.

Ko te wāhi tino nui i roto i te maimoatanga, ko te wā tona timatanga - i muri tonu tātaritanga. Ko te wāhi tuarua - te momo pūkete monosomy. Ki te te momo o 45H0, e kore e te wahine e taea ki te whai i to ratou tamariki i tetahi tikanga. āwhina Psychological kia taka e ia ki te whakaaro o te kawenga i te tamaiti - te pani.

Tiro mosaic o monosomy X - 46XY ki te whanaketanga o te rongoā hou hanga reira taea ki te waha tona tamaiti. Ko taea te ia whanau mate. meinga Adoption te i roto i tenei whakatinanatanga.