Mate tangata Heritable. Rārangi. Ko te mate tino noa, me te kino

I te timatanga o te rautau 21, i reira e neke atu i te 6 mano. Tuhinga o mate tuku. Na, i roto i ngā whare maha puta noa i te ao e ako mate tuku o te tangata, i te mea nui rārangi.

He te taupori toa kohakore atu ira, me te he iti pea ki te hapu i te tamaiti hauora. Ahakoa kahore e nga take ūkui tauira katoa o malformations, engari ka taea e tatou e amo e i roto i te 100-200 tau i muri, kua ki te akakoromaki i enei take pūtaiao.

He aha te mea he mate ira? whakarōpū

timata Genetics rite te pūtaiao tona haere i roto i 1900 ki te ako. mate ira ko te hunga e kua pā ana ki abnormalities i roto i te hanganga ira o te tangata. kia puta ine i roto i te kotahi ira ranei te torutoru.

mate tuku:

1. Autosomal tino.
2. Autosomal ngoikore.
3. Sex-hono.
4. mate pūira.

Ko te tūponotanga o te mate o te tamaiti ki te autosomal ine mahora tino - 50%. A, no te he autosomal ngoikore - 25%. Mate, sex-hono, ko nga mea e maua e te pūira X tūkinotia.

mate Nasledstvennnye

Ko te tahi mau hi'oraa o mate Here, kia rite ki te vysheozvuchennoy whakarōpū. Na, ki te mate tino-ngoikore ngā:

• syndrome Marfan.
• pāpāngia Periodic.
• Thalassemia.
• mate o Albright.
• . Otosclerosis.

ngoikore:

• Phenylketonuria.
• Ichthyosis.
• Ētahi atu.

Sex-hono mate:

• Hemophilia.
• Duchenne.
• mate Farben.

Ano i te rongo pūira tuku mate tangata. Rārangi o abnormalities pūira e whai ake nei:

• Shereshevskogo-Turner syndrome.
• Klinefelter syndrome.
• syndrome tangi o Cat.
• syndrome o Raro.

Na roto i te mate polygenic ngā:

• Raruraru o te huha (congenital).
• hē Heart.
• Tuakoi.
• ngutu ngatata me te mangai.

Ko te pīari ira tino noa - syndactyly. Ie hononga o te maihao. Syndactyly - he takahi o te kinokore tino ka tukinotia roto i te pokanga. Heoi, haere tahi tenei ine e te tahi atu syndromes atu kino.

He aha mate e tino kino

I roto i te hunga mate i tabulahia i taea wehewehe te tino kino mate tuku tangata. A tabula i ngā ratou o nga momo o kōhikohiko, te wahi puta pūira tātoru polysomes ranei, e ko, ka hei utu o kitea he rua o pūira ko te aroaro o te 3, 4, 5, neke atu rānei. kitea pūira 1 te a e tika ana ki te takahi o te wehenga pūtau hei utu 2. enei ine katoa.

Ko te kino te nuinga o disorders tuku tangata:

• Edwards 'syndrome.
• Filosilivá amyotrophy uaua.
• syndrome Patau.
• mate Canavan.
• Hemophilia.
• Ētahi atu mate.

No te mea o enei maumaui, ora te tamaiti i te rua ranei tau. I roto i ētahi wā, e kore e pera nui nga ine a taea te tamaiti ki runga ki te 7, 8 ranei ara 14 nga tau e ora.

syndrome o Raro

riro syndrome iho te, ki te he kawe o te pūira hapa tetahi ranei e rua ngā mātua. More āta, e pā ana te syndrome te ki tātoru 21 pūira (m. E. 21 pūira 3 hei utu o 2). Tamariki ki raro syndrome i te squint, te faarahi i roto i te kaki, i te āhua rerekē o te taringa, raruraru ngakau me te retardation hinengaro. Ko mo te ora o te pīari ati pūira hou e kore e taea te pupuri.

Na whakaatu tatauranga e i 1 700-800 tamariki whanau ki tenei syndrome. Women e hiahia ana ki te whai i te tamaiti i muri i 35 atu pea ki te hoatu whanau ki tenei tamaiti. Tūponotanga wahi 1 ki te 375. Ko te wahine, i te whanautanga o te tamaiti reshivshayasya 45 He tūponotanga o te 1 ki te 30.

Akrokraniodisfalangiya

Momo o te Pākatokato kainga - autosomal ngoi. syndrome Take - he takahi o te pūira 10. I roto i te pūtaiao, i huaina tenei mate ko akrokraniodisfalangiya ki te ohie, te syndrome Apert. Āhuatanga e nga āhuatanga o te hanganga o te tinana, pērā i:

• brahikefaliya (maumaui o te whanui, me te roa o te angaanga);
• hononga coronary o nga sutures angaanga, takawhita reira kitea (pēhanga toto tiketike i roto i te angaanga);
• syndactyly;
• rae nui;
• pōhauhautanga maha ki te whakamārama o te angaanga e kokopi ana i te roro, me te kore e hoatu ara ki ngā pūtau io.

I tčnei wā, tamariki ki Apert syndrome, whakaritea pokanga te ki ake i te angaanga ki te whakahoki pēhanga toto. He underdevelopment hinengaro hamani stimulants.

Ki te mea he tamaiti ki te tātaritanga o te syndrome, te tūponotanga e e ka whanau te tamaiti e rua ki te deflection taua, tiketike rawa te utuafare.

Syndrome tare hari me te mate Canavan - Van Bogart - Bertrand

Whakaaroa nga kōrero me enei mate. Te tautuhi syndrome Angelman taea e vahi i roto i te tau 3-7. He cramps, nakunaku rawakore, raruraru ki ruruku o ngā nekehanga tamariki. Te nuinga o ratou squint me ngā raruraru ki te uaua o te mata, i te mea he aha i runga i te mata maha ataata. Kei te tino akiaki Movement o te tamaiti. Hoki tākuta Ko reira mārama ki te haere, ka whakamātau te tamaiti. Ngā mātua i roto i nuinga o te wā e kore ratou e mohio ki ta te haere i runga i a tae noa atu pera ki te mea kua hono reira. A iti i muri mai, pērā i te meka e kore e taea e ratou te korero, tamata noa te tahi mea pararāwaha hé.

Ko te take e faaite syndrome te tamaiti - ko te raruraru i roto i te pūira 15 tenei. tutaki reira ko tino onge te mate - 1 take ia 15 mano whakatupuranga ..

Ētahi atu mate - mate Canavan - āhuatanga e te meka e te tamaiti he reo uaua ngoikore, i ia raruraru horomia kai. meinga ana te mate e pāpaka o te pūnaha io pokapū. Ko te take - te mate o te ira kotahi i roto i te pūira 17. Nā tēnei, kei te ngaro ngā pūtau io roro ki te tere ahu whakamua.

Ka taea te kite i Tohu o te mate i roto i te 3-marama tau. whakakitea mate Canavan te rite e whai ake nei:

1. hypotonia uaua.
2. Macrocephaly.
3. Haurangi puta i roto i te marama o te tau.
4. e kore e taea ki te pupuri i tona matenga tika te tamaiti.
5. I muri i te 3 marama, nui haere reflexes iohere.
6. riro tokomaha tamariki ki te 2 tau matapo.

Ka rite ki a koutou e taea te kite, te tino kanorau disorders tuku tangata. Rārangi aroaro anake hei tauira, ko te tawhiti atu i oti.

Me kï reira e ki te whai ngā mātua e rua te takahi i roto i te kotahi me te ira taua, he nui nga tūponotanga o ia i te tamaiti mate, engari ki te kōhikohiko i roto i ira rerekē, e kore e taea e tatou e wehi. Kei te mohiotia te reira i e i roto i 60% o ngā take, abnormalities pūira i roto i te kukune ārahi ki materoto. Otiia 40% o enei tamariki e whanau, me te whawhai mo to ratou oraraa.