Monosomy - menene wannan?

A kwayoyin tsarin da mutum chromosome nau'i-nau'i 23 aka bayyana, abin da ya bambanta a siffar da size. The most chromosome 1. Yana wuce girman chromosome 22 ne kusan sau 4. 23 da biyu - a chromosome X kuma Y. Su sanin da jima'i da mutane. A mata 23 ƙunshi biyu daga 2 X chromosomes, da biyu da aka kaddamarda XX. A maza, 23 ya kunshi wata biyu daga chromosomes X kuma Y, Ina nufin, - wani biyu daga XY.

Lokacin da tayi aka kafa, shi yana a matsayin duk da haka ba alamun wani mutum, amma 23 nau'i-nau'i daga chromosomes kayyade jima'i na nan gaba ne riga jariri a cikin mahaifa na gaba mahaifiyarsa. Previous 22 nau'i-nau'i ake kira autosomes. Su za a tabbatar da ci gaban duk kayan ciki da kyallen takarda jariri.

Rashin haihuwa a matsayin wata ãyã monosomy

Mace sterility iya zama da sakamakon daban-daban pathologies. A hali na take hakkin da tsarin 23 nau'i-nau'i daga chromosomes, shi da aka aza kafin haihuwa, a lokacin da m uwar kanta ya a Jihar tayi a cikin mahaifa.

Idan biyu na ashirin da m daya X chromosome, ko shi da aka lalace, irin abnormality kira monosomy X. rashin haihuwa - daya daga cikin mafi bayyanar alamun monosomy X. Modern magani nazarin yadda za alamun wannan cuta da kuma hanyoyin da za a bi da shi.

Mene ne wannan?

Monosomy - wannan sabawa, mai suna bayan da masanin kimiyyar wanda ya gano shi tare da Turner ciwo. Wannan kwayoyin cuta ne kawai a 'yan mata. A cewar ta statistics nuna game da 1 a 2500 lokuta.

A lokacin, ci gaban da maganin hana Turner ciwo ne ba zai yiwu ba. Girls da wannan cuta za su iya haifar da wata al'ada rayuwa, amma suna bukatar likita dubawa, saboda su iya ci gaba da rikitarwa.

Sauran alamun monosomy

Bayyana cewa 'yan matan da damar monosomy ciwo a cikin shimfiɗar jariri na iya zama da wadannan bayyanar cututtuka da cutar:

• A jariri kumbura iyawa da ƙafafunsa.
• Baby bayan takwarorinsu a kan girma.
• Palate a cikin wadannan 'yan mata ne mafi girma fiye da talakawan yaro, kuma shafuka da ke ƙasa.
• Marasa lafiya 'yan mata sukan typesetting kiba.
• Akwai sau da yawa lebur.
• A eyelids rataya low a kan idanunsa.
• Strabismus.
• The wuyansa ne taqaitaccen.
• Akwai jiki gashi sassan jiki.
• Taqaitaccen hannuwanku.

Bugu da kari a wadannan cututtuka, matashi girls, za a iya gano:

• Cututtukan zuciya da (nesmykaemost bawul bango).
• Slowing farko na mafarki.
• Ji matsaloli.
• M hawan jini (hauhawar jini).
• M cuta dangantawa da cututtuka a kunnuwa.
• Dry idanu.
• Take hakkin hali, har da scoliosis.

A cikin sharuddan jima'i cin lura:

• Disproportionality na waje genitalia.
• Undeveloped ƙirãza.
• A rashin jiki gashi karkashin armpits da kuma sama da pubis.
• igiyar ciki underdevelopment.
• A rashi ko rashin aiki na ovaries.
• Rage matakan mace ji ba gani.
• Hailar passivity, har da rashin haila.

A wahala kafa domin bayyanar cututtuka na ganewar asali ne cewa wannan bayyanar cututtuka iya lura a wasu cututtuka. Idan da suna da wata yarinya na kowane zamani, shi ne zama dole auku dubawa a asibitin.

Daya daga cikin halayyar siffofin monosomy na jima'i chromosomes ne da wuce haddi fata a tarnaƙi daga cikin wuyansa, wanda Forms tsaye Musulunci.

Sanadin monosomy

A wannan mataki na ci gaba da kimiyya ba zai iya tabbatar da dalilin da tayin monosomy daki-daki. Abin da aka sani ga tabbata - ba Pathology hade tare da gadar hali. Babban tasiri a kan abin da ya faru na cuta a cikin tayin kwayoyin cuta jima'i mahaifinsa cell a kusa da ganewa. Wannan shi ne babban dalilin monosomy.

Idan mahaifin ta genes sun halartar maye gurbi da cewa ya faru canji na tsarin da X chromosome, da yaro - wata yarinya, kuma, za a iya lalace ta 23 nau'i-nau'i daga chromosomes. Amma ya kamata a lura da cewa a cikin irin wannan iyali ba up a kan ciwon yara ne ba shi daraja. The mahaifin tare da take hakkin da X-chromosome ne sosai m ɗaukar ciki da haihuwar lafiya baby shi ne.

Me ya sa monosomy na X chromosome? A Sanadin wannan cuta ana karatu, amma a wannan mataki na magani iya ce da wadannan:

• Aukuwa monosomy a tayin da ba a hade tare da m waje yanayi.
• Wannan Pathology ba gaji. In ba haka ba, zai samu dukkan 'yan mata a cikin iyali gene-ji rauni uba.
• A mafi m hanyar Turner ciwo - da tasiri na cutarwa dalilai a kan jima'i Kwayoyin mahaifinsa jim kadan kafin ganewa.
• A lokacin da rabo daga cikin zygote da kuma mayar da shi a cikin tayi na iya faruwa malfunctions, wanda sa da mosaic-type monosomy.

ganewar asali da cutar

Don monosomy na chromosome a tayin da aka fitar da mulki, ko kafin haihuwa a-hadarin mata yin wani musamman kwayoyin gwaji. Wannan binciken - prenatal kayyade analysis - ya hada da duban dan tayi jarrabawa, wani biopsy na tsokoki da kuma fata na 'ya'yan itace, mai dakin gwaje-gwaje jini gwajin.

Irin wannan tsanani jarrabawa likita ya furta, a lokacin da ya zo ga cewa, barin 'ya'yan itace ko karbi wani ciki. Saboda haka, suna gudanar a farkon watanni 3 na ciki. Wannan shi ne, idan iyali ba ya warware matsalar, ko na iya zama ba yaro, binciken da aka ba nada.

Likita na iya bayar da shawarar kayyade gwaji to monosomy na chromosome 21 aka cire idan:

• Expectant uwa a kan shekaru 35.
• The iyali na a ciki ya lura hereditary Pathology.
• A cikin iyali, akwai lokatan lokuta na gaggautsa (a m) X chromosome.
• Tuhuma da hemoglobinopathies.
• Tuhuma da Down ciwo a cikin yaro da kuma sauran related to gadar hali, m yanayi.

Lokacin da ganewar asali daukan la'akari da irin abubuwan da cewa binciken da ya kamata ba kawo lahani ga lafiyar uwa ko yaro, shi yiwuwa ba haifar da asarar da tayin. Doctors gudanar bincikowa da ake bukata domin zama sosai m don samar da wani binciken da na ganewar asali.

Kafin kwayoyin gwaji mace dole ne sha mai nunawa jarrabawa da wani likitan mata a asibitin, likita ya yanke shawarar ko ciki a hadarin ya shafi, watau. E., Ko akwai wani alama cewa tayin zai fito fili monosomy ciwo. Kawai bayan wani tabbatacce amsar wannan tambaya ne directed a ciki kayyade gwaji.

A prenatal ganewar asali, akwai wasu hanyoyin - huda na membranes da nufin shan a kan bincike na ruwar, jini samfurori daga wajen cibiya igiyar, Fetoscopy. A karshen ne gabatarwar da bincike da kuma fetal jarrabawa therethrough. Fetoscopy amfani sosai da wuya, saboda a halin yanzu matakin na ci gaba na'urorin kiwon lafiya, wannan hanya nasarar maye gurbinsu da duban dan tayi.

Idan tayin ba a gano a cikin lokaci monosomy na X chromosome, kuma akwai wata tuhuma da cutar a 'yan shekaru bayan haihuwa, binciken da aka gudanar' yan mata da wadannan hanyoyi:

• Tsare ta babu jima'i chromatin.
• Ƙaddara da karyotype.
• Tattaunawa yaro likitan mata.
• Make Amurka na ciki al'aurar.
• A shekaru na 9-10 shekaru jini gwajin for hormones.
• Nada ta X-haskoki hannuwa saduwa da ci gaban kashi shekaru kullum.

A cewar wani binciken da wata musamman hukumar iya sanya a kan tawaya yanke shawara.

iri monosomy

Monosomy - wata cuta da cewa zai iya zama daban-daban. A haihuwa wata yarinya a karo na biyu chromosome biyu XX iya zama ba a nan gaba ɗaya. Wannan irin aka kaddamarda kamar yadda halittar jini 45H0. Wadannan 'yan mata su ne gaba daya ba a nan ko undeveloped ovaries da mahaifa. Su balaga ba faru. Babu chromosome, wanda kayyade ci gaban sakandare jima'i halaye, jima'i gabobin da kansu da kuma alaka ji ba gani.

Idan na biyu chromosome a cikin biyu XX yanzu, kwayoyin irin 46 XY. A wannan yanayin, da yarinya za ta yi wani mahaifa da ovaries, amma suna da wani rudimentary tsarin, t. E. Ba zai ba su iya ovulate da juna biyu yaro.

Fiye da m hali a lokacin da daya chromosome ya bace a cikin nau'i-nau'i 1 - 22. Wadannan ana kira da autosomes. A al'ada ci gaban da zygote a kowane cell 2 aka aika zuwa daban-daban chromosomes zura masa sandunansa. Idan daya rasa da autosomes, da iyakacin duniya na Kwayoyin aka aiko kawai zuwa yanzu chromosome. A ta mahaɗar tsakãninsu da lafiya, da zygote aka samu tare da wani mahaukaci yawan chromosomes. Wannan take kaiwa zuwa fetal mutuwa da kuma maras wata-wata zubar da ciki. Idan yawan chromosomes ne mafi girma daga 1 fiye da misali version, wani zubar da ciki zai iya faru ba, amma idan wani yaro da aka haife shi, da ikon rayuwa a dogon lokaci.

m monosomy

M monosomy na chromosome breakage lokacin da kafa, inda a biyu daga hagu da kuma daya batu na biyu chromosome. A sabili da cutar tsarin rearrangement na chromosomal jima'i iyaye Kwayoyin a lokacin jim kadan kafin ganewa. A sakamakon cutar dogara ne a kan abin da irin chromosome underwent m, halakarwa.

Syndrome "cat kira"

Halakar bangare na chromosome 5 biyu halitta da ciwo na "cat ta kuka." Maƙogwaro rashin lafiya yaro quntata, guringuntsi taushi, sakamakon wani jariri kira yayi kama da cat meowing.

Domin irin wannan ne ma halin da tsoka flaccidity baby, jinjirin wata-dimbin yawa fuska, shafi tunanin mutum retardation da kuma ta jiki fada a kwatanta da da takwarorinsu. The yaro lura kwanyar hypoplasia, low matsayi daga cikin kunnuwa, strabismus da ido matsaloli. Yawanci, wadannan yara da wahala daga zuciya cututtuka. Wadannan marasa lafiya suna zaune dogon - lokaci har zuwa shekaru 10. Irin wannan Pathology gani a 1 daga 45,000 lokuta.

Wolf-Hirschhorn ciwo

Katsewa na daya chromosome 4 nau'i-nau'i (Wolf-Hirschhorn ciwo) ya auku a 1 a 100 000. Yara da suke da monosomy na chromosome 4 nau'i-nau'i, sau da yawa samu a cikin matasa iyaye mata da kuma kakanninsu. Haihuwa nauyi ne da yawa kasa da al'ada - game da 2 kg. A jarirai, akwai wani bata lokaci ba jiki da hankulansu ci gaba da kuma mota skills da wahala ta sosai sannu a hankali. Sun sha wahala underdevelopment na ragargaje.

By su bayyanar iya lura beaked hanci, shahararren goshi, low-rataye kunnuwa, a tsaye folds a gaban daga cikin kunnuwa. Su ma yanzu tsoka flaccidity. Sun yi kusan ba su amsa to waje samuwar kasashe. Irin yara ne seizures. Outwardly, su sami wani mahaukaci tsarin idanu, karamin baki tare da drooping lebe a cikin sasanninta, m ƙafafunsa. Marasa lafiya yara sau da yawa wahala daga zuciya cututtuka. Shafi koda cuta. Mafi yawa daga cikin yara tare da wannan chromosomal halaka ba rayu har zuwa wani shekara.

Orbeli ciwo

Katsewa na chromosome 13 da ake kira ciwo biyu Orbely. Yara haife tare da wannan sabawa da wani karamin nauyi - har zuwa 2.2 kg. Suna da wata cuta daga kusan dukkan kayan ciki. Su tasowa kwanyar, m gada - goshi nan da nan sauya zuwa hanci. A hanci yana da wani karin nisa, sama ne high, da kunnuwa ma low. The jariri lura Pathology na hypoplasia na musculoskeletal tsarin. Akwai iya zama wani halitta tashar daga cikin dubura da kuma dubura. Sau da yawa akwai cututtukan zuciya, koda cuta, kwakwalwa cuta. Wadannan yara ayan Oligophrenic su da azãba seizures, sau da yawa suka rasa sani. Babies ba rayu har zuwa 1 shekara.

Monosomy - wannan shi ne mai matukar hatsari cuta, da kuma yara, ana haifuwarsu ne tare da m monosomy musamman rare. Mata masu ba su da daidaita ga irin wannan bakin ciki taron.

Matsalolin monosomy X

Mata tare da monosomy X yiwuwa ga cututtuka daban-daban na kayan ciki ne mafi kusantar fiye da lafiya mutane genetically. Su ya kamata a gani kafin likita da sha na lokaci-lokaci likita Nazarin.

M wahala ne na koda gazawar. Marasa lafiya mata sau da yawa faruwa cututtuka na urogenital gabobin, improperly located, ba su da cikakkiyar sifa kodan.

Monosomy Idan mutum yana da wani wuri ya zama, shi wani lokacin shan wahala daga thyroid gland shine yake, wanda ya fitar kasa matakan hormones da ake bukata ta cikin jiki. A thyroid gland shine yake an inflamed, saboda abin da ya faru da kuma wadannan matsaloli. Jiyya iya kawai zama shan magani, tallafawa al'ada hormonal auna. Dole ne su sanya wani likita. Kai-magani ake ba da izini.

Fama da Turner ciwo ne kusantar wajen samar da celiac cuta. Wannan Pathology da aka bayyana a cikin zargin nasaba da gina jiki Alkama. Marasa lafiya ba zai iya ci kayayyakin sanya daga alkama da sha'ir.

Matsalolin iya ba da wani monosomy. Cututtuka cewa bi monosomy iya zama daban-daban, misali, cututtukan zuciya. Mata tare da Pathology dole kallo na likitan zuciyar, wanda waƙa da matsayi na lakã da kuma hana ci gaban hauhawar jini.

Tun da marasa lafiya da Turner ciwo ne yiwuwa ga kiba, su zai iya fuskantar ciwon sukari.

rasa da zubar da ciki

Kwayoyin cututtuka, ciki har da monosomy tayin yana dauke daya daga cikin Sanadin rasa zubar da ciki. Wannan ne mutuwa da tayin ciki da uwarsa. Monosomy lõkacin da ta faru to 12 makonni na ciki. Wani lokaci da rayuwa da tayin karin - har zuwa 20 makonni. Wannan hadari ne in babu fetal daya chromosome biyu 1-22, da ake kira trisomy. Monosomy ne wani lokaci zuwa m katsewa na ciki.

Ƙoƙarin ajiye wani tayin da tsanani raya ci gaban munanan ba ze m. Rasa da zubar da ciki ya ƙare a ashara. Irin wannan hadari ne mata kan da shekaru 35 - 40 years old, da kuma waɗanda suka yi wannan ya faru kafin.

The masana kimiyya ma lura da wani raguwa a rayuwa expectancy na mata tare da monosomy, laulayi atherosclerosis, maruran.

monosomy magani

Monosomy - a Pathology, wanda ba amenable don magani, amma likitoci nasarar jimre da nasa sakamakon. Jigon da magani ne cewa bã tãre da hormonal tsari ovaries jiki yana bukatar wucin gadi tsari. Pathology na ciki gabobin suna bi lafiyar ko surgically. M jiyya hada da:

• Supplementation 'yan mata girma hormone nan da nan bayan ganewar asali.
• By da shekaru balaga, da lafiya da yara fama monosomy, rubũta ji ba gani.
• Wa anda suke so su kai yaro ga mata da Pathology taimaka haihuwa magani - bullo da wani kwan da ya hadu bayarwa tare da kara kallo na ciki.
• Jiyya na pathologies na ciki gabobin da zamani kwayoyi da jiyya.
• M taimako ga mata domin daidaita da zamantakewa yanayi, shan la'akari peculiarities na Physiology.

A mafi muhimmanci a lura shi ne dace ta farkon - nan da nan bayan ganewar asali. Batu na biyu - da lissafi irin monosomy. Idan da irin 45H0, matar ba za ta iya yin su yaro ta kowane hanya. M taimako ya kamata a shirya ta da ra'ayin na al'amurra da wani yaro - marãya.

Mosaic view of monosomy X - 46XY tare da ci gaba na zamani da magani ya sa ya yiwu don kai wa yaro. Amma ya za a iya haife lafiya. Tallafi an fi son a wannan embodiment.