Monosomy - He aha ka keia?

Ke aaiaoe 'ole o ke kanaka chromosome hui 23 Ua ho'ākāka' ia, a oko ka shape a me ka nui. Ka nui loa chromosome 1. It aku i ka nui o ka chromosome 22 Ua aneane 4 manawa. 23 He mau - he chromosome X a me Y. Ua ho oholo i ka wahine ana o na kanaka. Ma nā wāhine 23 iloko ona i kakauia i ka paʻa o 2 X chromosomes, ke mau ua koho XX. I na kanaka, 23 ninoieo o ka paʻa o chromosomes X a me Y, a laila, - i ka paʻa o XY.

I ka wā o ka embryo ua hanaia, ka mea, ua like no nae i na hoailona o ke kanaka, akā, 23 hui o chromosomes e hoʻoholo i ka wahine o ka wā e hiki mai ka mua he kamaiki i loko o ka uterus o ka wā e hiki mai makuwahine. Previous 22 hui i kapaia autosomes. E hōʻoia i ka hooulu ana o nā mea a pau na nā loko a me nā'aʻaʻa o ke keiki.

Infertility like me ka hōʻailona monosomy

Female sterility hiki ia i ka hopena o nā pathologies. I Ina o ka 'aʻe' ana o ka 'ole o ka 23 hui o chromosomes, ka mea, ua waiho mua hanau, i ka wa a ka Loaʻaʻia makuahine ia ia iho i loko o ka moku'āina o embryo i loko o ka opu.

Inā ka paʻa o ka iwakalua nalowale kekahi X chromosome, a me ka mea, ua poino, ua abnormality kapa monosomy X. Infertility - kekahi o ka loa ma ka hōʻike hoailona o ka monosomy X. Hoikehonua lapaau haʻawina pehea na hoailona o keia maʻi a me ka aoao i pono ia.

He aha ka mea?

Monosomy - keia haiahū kūmau, i kapaʻia ma hope o ke nä känaka 'epekema i' ike akula ia me Turner maʻi pale. Kēia aaiaoe maʻi mea wale nō i loko o kaikamahine. E like me kona mau 'ikepili helu hōʻike e pili ana 1 ka 2500 hihia.

Ma ka manawa, ka hooulu ana o ka lapaau, e pale aku Turner maʻi pale mea hiki ole. Girls me keia maʻi ke alakai i ka maʻamau ke ola, akā, e pono 'inikua hooponopono, no ka mea, ka mea hiki ke hoʻomōhala complications.

Other hoailona monosomy

Hoikeia mai ia i kaikamahine i ka manawa e monosomy maʻi pale ma ka kamaliʻi e ia i ka hahai ana symptoms o ka maʻi.

• Iʻuʻuku mai pehu komo a me nā wāwae.
• Baby hope na¯ ma luna o ka ulu.
• Kīleo i loko o ua mau kaikamahine nei, uaʻoi kona kiʻekiʻe ma mua o ka awelika keiki, a me nā māhele o lalo.
• E hoomanawanui i kaikamahine kamaʻilioʻana i ka typesetting overweight.
• Aia He pinepine palahalaha.
• Nā lihilihi, ke kau nei haʻahaʻa ma kona mau maka.
• Strabismus.
• Ka'ā'ī ua hoopokole.
• Aia He He kino lauoho kino wahi.
• Hoopokole lima.

Ma waho aʻeo ia mau maʻi, adolescent kaikamahine, hiki ke hōʻike ':

• Ka maʻi puʻuwai (nesmykaemost kiwikā pa).
• Ka meheu o ka hoouka kaua ana o puberty.
• Lohe pilikia.
• Pinepine kiʻekiʻe ke koko, (hypertension).
• Paakiki maʻi pili i nā mea palahēhē i loko o nā pepeiao.
• Maloo maka.
• Kue o ke kulou, a hiki i ka scoliosis.

Ma hua'ōlelo o ka moe? Acaeoey malama:

• Disproportionality o ka mea mawaho genitalia.
• Undeveloped umauma.
• I ka nele o ke kino lauoho ma lalo o nā armpits, a ma luna o ka pubis.
• uterine underdevelopment.
• I ka wa e kaawale aku ai inactivity o na ovaries.
• Hoemiia pae o ka wahine hormones.
• Menstrual passivity, a hiki i ka nele o ka menstruation.

Ka pilikia o ka holo ana no na symptoms o kaʻike, mea i ka ua symptoms hiki ke malama i loko o nā maʻi. Inā ka mea, i ke kaikamahine o kekahi makahiki, he mea pono i ka kekahi, nana i loko o ka? Aaieou.

Kekahi o na ano hiʻona monosomy o keka chromosomes Ua oi ili ma ka aoao o ka'ā'ī, a 'ano apau loa he lonikū pa.

Kumu o ka monosomy

Ma keia kahua o ka? Acaeoey o ka 'epekema hiki ole hookupaa aku i ke kumu o ka fetus monosomy au mamuli. He aha ka mea i ike no ka paa -ʻaʻohe pathology pili me nā kūpuna mai. I ka papa kuhikuhiE keiki ma luna o ka hanana o ka maʻi i loko o ka fetus aaiaoe kāna hana keka makua kāne aeea puni hapai ana. 'O kēia ke kumu nui monosomy.

Inā ka makuakane o nā'ōewe ua undergone ka mutation i mai ai hou 'ana o ka' ole o ka X chromosome, ke keiki - he kaikamahine, nui, hiki ke poino ma ka 23 hui o chromosomes. Akā, he mea pono e kaulana ia i loko o ia i ka 'ohana, e haawi mai i ka poe keiki nei i ke kumukuai o ia. Ka makua kāne a me ka 'aʻe' ana o ka X-chromosome ka loa paha ka hapai ana a me ka hanau ana o ke ola i ke keiki ia mea.

No ke aha la i monosomy o ka X chromosome? Nā kumu o kēia maʻi i? Anoee, akā, ma kēia kahua o ka lapaau ke olelo aku i ka kēia:

• Hanana monosomy i loko o ka fetus ua ole me ka adverse mawaho olelo pili.
• Kēia pathology ua i ili. I ole ia, ka mea e loaa i na kaikamahine i loko o ka ohana'ōewe-poino makuakane.
• Ka loa paha kumu o Turner maʻi pale - i ka hopena o nā palapala aʻe ma luna o ka ke keka keena o kona makua kāne ma hope koke mua hapai ana.
• Iloko o ka mahele o ka zygote a me ka hoʻololi 'ia i loko o ka embryo kānāwai malfunctions, a i ka mosaic-type monosomy.

ʻike, no ka maʻi

E monosomy o ka chromosome i loko o ka fetus i ua aliʻi iholaʻo ia mai, a hiki mua hānau ma-kamepiula wāhine e hana i kūikawā aaiaoe ikea ai. Kēia anamanaʻo - prenatal aaiaoe Ka Ikepili - nā ultrasound nana, he biopsy o nāʻiʻo a me kaʻili o ka hua, he keʻena hoʻokolohua koko hōʻike.

Oia mea nana ke kauka prescribes, ka wā e hele mai ai i mea, haalele i ka hua a me ka 'ōlelo i ka hāpai keiki. No laila, ka mea, e lawelawe i loko o ka 3 mahina o ka hāpai keiki mua. Ia mea, ina o ka ohana 'aʻole i hoʻonā i ka maʻi pūhā, a i ole ia i kekahi keiki, ke anamanaʻo ua i kohoia.

Ke kauka i waiho aku aaiaoe ikea ai e monosomy o chromosome 21 i hoʻokoe 'ina:

• Expectant makuahine no 35 makahiki.
• I ka ohana o ka hapai ae nānā mau hereditary pathology.
• Ma ka 'ohana, he ua i na hihia o brittle (he fragile) X chromosome.
• Ua ulu maila ka hemoglobinopathies.
• Ua ulu maila o Down maʻi pale i loko o ke keiki a me ka mea'ē aʻe nā i nā kūpuna mai, adverse wahi, i hiki.

A hiki aku i kaʻike, e hookiekie ae i ka mooolelo i keia mau mea i ka anamanaʻo e ole lawe mai i ka hewa a hiki i ke ola o ka makuahine a me ke keiki,ʻaʻole ia e 'ai pono i loko o ka poho o ka fetus. Kauka e mālama nei lapaʻau 'ana i koi' ia e ia lahui palapala hōʻoia no ke? Iecaianoaaiiie o kekahi ana o kaʻike,.

Ma mua o ka aaiaoe ikea ai wahine pono undergo i ka loiloi keia hookolokolo ana ma ka gynecologist i loko o kona? Aaieou, ke kauka manao, ina paha hapai i kamepiula pili, 'o ia hoʻi, E., ina he mea kekahi likelihood i ka fetus e uē helu monosomy maʻi pale. Wale nō ma hope o ka maikaʻi pane i keia ninau ua kuhikuhi ma hapai aaiaoe ikea ai.

Ma prenatalʻike, he mea'ē aʻe ano - he puncture o membranes me ka AIM o ka lawe ana ma luna o ka Ikepili o amniotic loli, koko Eia kekahi laʻana, mai ka piko, Fetoscopy. Ka hope o ka hoʻokomo 'ia' ana o kaʻimi a me ka fetal ninaninau therethrough. Fetoscopy hoʻohana loa kākaʻikahi, no ka mea, ma ka mea keia kiʻekiʻe o? Acaeoey o ka 'inikua manaʻo, keia hana ana UAIAaIN ma ultrasound.

Inā ka fetus i ole, ua 'akomi i ka manawa monosomy o ka X chromosome, a ua he e hoʻohuoiʻia no kaʻike, he makahiki kakaikahi ma hope o ka hānauʻana, i ka anamanaʻo me ka mākaʻi kaikamahine i ka i kēiaʻaoʻao.

• Ho'ākāka 'ia ma ka wa e kaawale aku o ka wahine chromatin.
• Manao ma ka karyotype.
• E hoʻopaʻa i kona kūkā keiki gynecologist.
• E US o na wahine.
• I ka makahiki o ka 9-10 makahiki koko hoao no hormones.
• Hoonoho ia e ka X-kukuna o ka lima, e hālāwai me ke kūpono 'ana o ka iwi makahiki kūmau.

E like me ke ana ma ka kūikawā Komisina i ke i ma kīnā o ke kino hooholo.

ano monosomy

Monosomy - he maʻi i hiki e keʻano. Ma ka hanau ana o kekahi kaikamahine i loko o ka lua o ka chromosome paʻa XX hiki e kahi e loa. Kēiaʻano i hoʻohikiʻia me aaiaoe? 45H0. Mau kaikamahine, ua pau loa ia ma kahi'ē paha undeveloped ovaries a me uterus. Lākou puberty Aʻole e lawe wahi. No chromosome, a hoʻoholo i ka hooulu ana o nā haumāna 'īnea i ano, moe nā loko ia lakou iho, a pili hormones.

Inā ka lua o chromosome i loko o ka mau XX makana, aaiaoe type 46 XY. Ma keia hihia, ke kaikamahine e i ka uterus a me ovaries, akā, e loaʻa ka mea, i ka rudimentary 'ole,' ole. E. EʻAʻole e hiki ke ovulate a hapai i ke keiki.

Nui hou pepehi hihia ka wā hoʻokahi chromosome ua nalowale i ka hui 1 - 22. O ka poe i kaheaia ke autosomes. Ma maʻamau kūpono 'ana o ke zygote i loko o kēlā me kēia aeea 2 e hoouna aku i kekahi mau chromosomes kona auamo. Inā kekahi i nele i na autosomes, o ka laau o ke keena ua hoouna wale i kaʻikena chromosome. Ma kona confluence me ka mea ola, i ka zygote ua loaa me ka'āno'ē helu o chromosomes. Ua hiki aku ai i fetal ka make a me ka noho'na makaainana i ulu abortion. Inā o ka helu ana o chromosomes mea oi ma ka 1 ma mua o ka hae mana, he abortion e ole e hiki mai, akā, inā he keiki ua hanau, hikiʻole ke ola i ka lōʻihi manawa.

hapa monosomy

Hapa monosomy o chromosome haki ka wā i hanaʻia, a ma kekahi mau o ka hema a me kekahi wahi o ka lua o ka chromosome. Ke kumu o ka maʻi o ka mall rearrangement o chromosomal anal makua keena ma ka manawa hope koke mua hapai ana. Ka hopena o ka maʻi hilinaʻi ma ka hapa ka make i ke ano o ka chromosome akaaka malu.

Maʻi pale "popoki uwē"

I ka make ana o ka aoao o ka chromosome 5 mau hana i ka maʻi pale o "popoki ka uwēʻana." Larynx maÿi keiki hou, cartilage palupalu, kūpono ai i loko o ke kamaiki uwē kohu he popoki meowing.

No kēiaʻano mea i wehewehe aku e Muscle flaccidity pēpē, crescent-hoʻokino maka, noʻonoʻo retardation a physical lag ma e like me kā lākou mau na¯. Ke keiki malama iwipoo hypoplasia, haʻahaʻa kulana o na pepeiao, strabismus a me ka maka pilikia. Nō kāu, i kēia mau keiki e ae, mai ka naau mai. Mau nā mea maʻi e noho lōʻihi - manawa mai a hiki i 10 makahiki. Oia pathology ike i ka 1 mai o 45.000 hihia.

Wolf-Hirschhorn maʻi pale

Rupture o kekahi chromosome 4 hui (Wolf-Hirschhorn maʻi pale) ia lŘlŘ i ka 1 ma ka 100 000. Children ka poe i monosomy o chromosome 4 hui, pinepine loaa i ka bipi makuwahine a me nā mākua. Birth kaumaha mea nui i emi ma mua o maʻamau - ma kahi o 2 kg. Ma na kamalii uuku, aia no he kali hou aku ke kino a me ka noʻonoʻo 'ana a me ka Hawaii mākau ua huikau e loa lohi. Ka mea, i ae underdevelopment o ka iwipoo.

Ma ko lākouʻano i hiki e hoailona oukou eheu akau ihu, koʻikoʻi lae, haʻahaʻa-slung pepeiao, lonikū opi ma mua o ka pepeiao. Ka mea, i keia manawa Muscle flaccidity. Ka mea, aneane e i pane koke i ka mawaho stimuli. Oia na keiki i ke kāʻili 'ana. Mawaho, ka mea, ke i ka'āno'ē 'ole o nā maka, he uuku waha me ka palupalu lehelehe ma na kihi, kekeʻe wawae. Maʻi keiki pinepine e ae mai ka naau mai. Loli hakuʻala maʻi. Ka hapa nui o nā keiki i kēia chromosomal luku mai i ola mai a hiki i ka makahiki.

Orbeli maʻi pale

Rupture o chromosome 13 kapaia ka maʻi pale paʻa Orbely. Keiki i hanau i keia haiahū kūmau me ka uuku kaumaha - mai i 2.2 kg. Ka mea, i ka maʻi o ka aneane pau loa na nā loko. Ka mea, underdeveloped puniu wale no, nalo alahaka - lae koke mea hoʻololi i ka ihu. Ka ihu i ka loa ka laula, ka lani mea kiʻekiʻe, nā pepeiao oi haʻahaʻa. Ke keiki malama pathology o hypoplasia o ka musculoskeletal nenoaiu. Aia i e ole maoli Kanal o ka rectum a me ka anus. Pinepine ma laila i naʻau maʻi, hakuʻala maʻi, lolo maʻi. Mau keiki kamaʻilioʻana, e Oligophrenic ko lakou hoomainoinoia, ke kāʻili 'ana, ka mea pinepine nele ike paka i. Keiki mai i ola mai ai i 1 makahiki.

Monosomy - keia mea he pilikia loa maʻi, a me ka hapa monosomy like pohihihi na keiki i hanau ai. Expectant makuwahine e ole i e hoʻomaʻa i ia hanana i kaumaha.

Complications monosomy X

Women me ka monosomy X prone i ka maʻi likeʻole o ka mea na nā loko, ua oi paha ma mua o ola kanaka genetically. Ka mea, e ike e ia e ke kauka, a undergo papa'āweʻaweʻa kemika 'inikua examinations.

Pinepine complication meaʻaʻa puʻuwai ole. E hoomanawanui i wahine pinepine ana infectious maʻi o urogenital nā loko, improperly loaa, e ole ke kino puʻupaʻaʻelua.

Monosomy Inā kekahi kanaka i kekahi wahi e e, ia i kekahi manawa poino, mai ka thyroid gland, i produces lawa pae o hormones pono ai ma ke kino. Ke thyroid gland ua wela ai, no ka mea, o ka mea e hiki mai a me kēia mau pilikia. Iapaau ana i wale nō e lawe ka lapaʻauʻia, kākoʻo maʻamau hormonal koena. Ka mea, e koho i kekahi kauka. Pakiko-ka lapaʻauʻia ua ole ae.

Loaa mai Turner maʻi pale a pau, aolie e hoʻomōhala celiac maʻi. Kēia pathology ua hoikeia i loko o ka muli o allergies i ke kumuʻiʻo gluten. hiki ole hoʻomanawanui iki mai ai huahana i mai ka palaoa a me ka bale.

Complications ke haawi aku i kekahi monosomy. Maʻi e pili ana i monosomy i e okoa, e laʻa me, mea'ōnaehana mānowai koko maʻi. Women me ka pathology pono kilo o ka cardiologist, ka poe i Hoʻokolo ke kūlana o ko lākou aorta a me ka pale aku i ka ulu ana o ka hypertension.

No nā mea maʻi me Turner maʻi pale i prone i ka obesity, ka mea, ke maka mimikō.

lilo abortion

Aaiaoe maʻi, me monosomy fetus ua manaoia kekahi o na kumu o kaʻalā iā abortion. 'O kēia ka make ana o ka fetus i loko o ka opu o ka makuwahine o ka. Monosomy ka wā e hana ai i 12 pule o ka hāpai keiki. I kekahi manawa, i ke ola o ka fetus hou - i no 20 pule. Kēia pilikia i loko o ka wa e kaawale aku o fetal kekahi chromosome mau 1-22, ka ai-kapaia trisomy. Monosomy mea he mea i deliberate haʻahaʻa o ka hāpai keiki.

Ke ho'āʻo nei e hoola i ka fetus me ka loa developmental abnormalities aʻole he sensible. Lilo abortion welau ma ka miscarriage. Oia kamepiula i nā wāhine ma luna o ka makahiki o ke 35 - 40 o kona mau makahiki, a me ka poe a pau i kēia i hiki mai ai ma mua.

Nā kānakaʻepekema pū akula nō hoʻi i ka ho'ēmiʻana i loko o ke ola expectancy o ka wahine me ka monosomy, susceptibility e atherosclerosis, hikoko.

monosomy lapaʻau

Monosomy - he pathology, i mea ole amenable i ka lapaʻau, akā, na kumu ana Makuakane me kona hopena. Ke ae pā o ka iapaau ana mea i devoid o hormonal hooponopono ovaries kino neleʻimi hoʻopunipuni hooponopono. Pathology o ka mea na nā loko e hana medically paha surgically. Hulina lapaʻau nā:

• Supplementation kaikamahine ulu hōmona koke ma hopeʻike.
• Ma ka makahiki o ka puberty, ola na keiki pilikia monosomy, i hoakaka ia hormones.
• Ka poe i makemake e lawe ai i kekahi keiki no ka wahine me ka pathology kōkua reproductive lapaau - hoike o ka fertilized hua mau pou me ka hou kilo o ka hāpai keiki.
• Lapaʻau o pathologies o na nā loko me ke kālā ai 'a me ka ohe..
• Manaʻoʻike kōkua i ka wahine i mea e ke hakuloli i ka nohona a puni, e lawe ana i no 'o physiology.

Ka loa nui wahi i loko o ka lapaau o ka manaʻoi hoʻokoe 'kona hoʻomaka - koke ma hopeʻike. Ka lua o ka wahi - ka mooolelo type monosomy. Inā i keʻano o 45H0, eʻaʻole e hiki iā i kā lākou mau keiki ma kekahi mea i ka wahine. Manaʻoʻike kōkua E hoomakaukau ia i ka manao o ka i'āpono i ke keiki - he keiki makua.

Mosaic nānaina o ka monosomy X - 46XY me ka ulu ana o ke kālā no lapaau i ka mea e hiki ai e kau maluna ona kona keiki. Akā,ʻo ia hiki ke hanau maʻi. Hookamaia ua oʻa ia i loko o kēiaʻano.