He aha mea he Wolf-Hirschhorn maʻi pale? Wolf-Hirschhorn maʻi pale He aha ka pilikia?

He nui na maʻi i kanaka maka ka loa pohihihi keia. Ia mea ke kumu no ia mau mea, i mau kanaka. Mau pilikia nā a me Wolf-Hirschhorn maʻi pale. He aha ia mea, ina paha ia mea i ka mea pepehi maʻi a me kekahi map of ma ka ola o kēia mau hoʻomanawanui iki mai - i keia, e hoʻoholumua i ia.

Summary

Initially, ka mea, e kaulana ia i ka aaiaoe kāna hana, me he Wolf-Hirschhorn maʻi pale, Ua nei i ho'ākāka 'ia e like me 1965. Hana ia i ka ia manawa he nui o Kelemānia geneticists. Ke kumu o keia pilikia mea he moʻolelo holoi (kekahi chromosomal rearrangements, ka wā hapa o ka chromosome ua wale nalowale) o ka pōkole lima o chromosome 4. I ka mea aie i kekahi aaiaoe loli i loko o kānaka nei i kekahi hapa o ka mea ma luna o 4-chromosome, i hiki aku ai i na, a mawaho loli. Initially, i ike i ka pilikia e like me 4p-maʻi pale. Ma hope pathology hoomaka ae la e kahea aku i ka inoa o nā kānakaʻepekema, ka poe i kuleana i loko o kona puka.

kekahi mau 'ikepili helu

Wolf-Hirschhorn maʻi pale, kŘpa a pohihihi keia. Ka mea hiki wale mai o ka maʻi. Kekahi hihia o chromosomal loli ma ka pili ana i hoʻokahi haneri tausani ola na keiki. Inā mākou e kamailio e pili ana i ke keka, ua loaʻa i ka oi paha 4r- maʻi pale i loko o na kaikamahine ma mua i loko o nā keikikāne. Inā 'oe e mākaʻikaʻi i ka like ana, alaila 75 nā mea maʻi me ka kaikamahine helu mahina no ma kahi o 50 kane keiki me ka maʻi. It E e hoʻomaopopo i ka wehewehe no keia mea, kńnaka mai e haawi aku. Eia naʻe, i kēia mau nā hoailona, ua nui loa no ke ao nei o ka 'epekema, a me ka poe akamai i ua lōʻihi ka hana ma luna o nä ka papa kuhikuhiE kumu o ka chromosomal rearrangement. Ua E hoi e kaulana ia i ka lā, i ho'ākāka 'ia ma ka au mamuli 130 hihia o keia maʻi, i ka nui o ka pilikia i ka hoʻopaʻa haʻawina.

About na kumu o ka maʻi pale i loko o nā keiki

Hōʻike no ia o ka pilikia me Wolf-Hirschhorn maʻi pale, kona kumu mea nui e noonoo ma ka wahi mua. Initially, ka mea e e hoʻomaopopo i ka maopopo mawaho kumu, e like me: heʻino pahaʻano a'āno'ē pāpana o ke ola ana o na makua, hiki ole ke kapaiaʻepekema. Ma kēia hihia, na mea a pau i oi huikau.

Initially, ka mea pono e olelo ana i keia maʻi pale ka pilikia no ka hoʻomanawanui iki mai ka poe i pilikia a me ka mahele o ka autosomes (hui kaulua chromosomes, a nō ka mea i loko o kānaka, nānā 'ole o ko lākou ka wahine paha, ka', i Akä naÿe i ka ke keka chromosomes). Littleʻoi i loko o laau lapaau. E noiʻi hoʻopaʻapaʻa ana i keia pathology ia lŘlŘ ka wā Hoʻohana poho o 4r16 (ka poho 4r12-4r15 (particles) ka hoʻonāukiukiʻana nō okoa loli ma keʻano, a na nā loko). Ua mea i nui, e hoailona oukou ia ia ma keia hihia i ke kūlana nunui hoʻokaniʻia e nā kūpuna mai. Penei,ʻo nā moku halihali mokulele o kaʻikepili rearrangement pono he mau makuwahine a me na makua o nā keiki i kēiaʻike.

ʻO kekahi mea i pono e hoʻomaopopo: ke kumu o ka maʻi pale i e 4r- ke komo lima o chromosomes (i loko o keia hihia, ka mea, i ole puunaueia longitudinally, e like me ka mea e e, a me ka transverse). Koke aku au e olelo aku i loko o keia ha i ka opiopio e hoomanawanui i anao? Aou oi hou symptoms i mea ole ano no ka maemae holoi '4r-.

I ka papa kuhikuhiE lapaʻau hoailona

Like nae ko waho nana Wolf-Hirschhorn maʻi pale? Symptoms e hana i keia pilikia, a ua hōʻike o kaʻike,, uaʻokoʻa. Eia naʻe, i loko o ka nutshell, laila, no keia pathology ua wehewehe aku e hoʻopaneʻe 'ia ana i wale physical, akā, i ka psychomotor kūpono' ana o ke keiki. 'O kēia ka papa kuhikuhiE lapaʻau symptom o ka pilikia.

symptoms

Oe E maopopo leʻa hai aku ana i ka Wolf-Hirschhorn maʻi pale i symptoms. No ka laʻana, ka mea hiki ke koho i ka laulā. Naʻe, ka mea e e kaulana i ka mea i hana i ke keiki ka pathology Ua kokoke imperceptible, a me ka mea hou i i malama ia ma ka mawaho nānā aku. Ke kumu nui hiʻona o ka maʻi pale nā:

• Uncharacteristic 'ole o ka puniu wale no, a me ka ai-i kapaia o "koa mahiole". Ke keiki hiki ke eheu akau ihu shape. Pepeiao, ua nui loa, ottopyrivayutsya. Ua hiki no hoi e hypertelorism, ka wā, piʻi pū i ka hana nui ana o ka mamao ma waena o nā maka. hiki no hoi Sami'ōnohi a e hewa e hoʻomōhala.
• Microcephaly, i ka wa a ka poe mai keiki ka puniu wale no mea nui uuku ma ka nui ma mua o ka mea ola. Ua Ua hoi hoemi i ka nui a me ka lolo.
• Convulsions, i mea 'ole-kekahi pane o ke keiki i nā mawaho stimuli. I keia manawa, i ke kamaiki ke ahiahi make.
• Kīleo, olelo paha lehelehe luna hiki ole e ulu, i kekahi manawa, ka mea i hana naele.

na nā loko

I kekahi manawa ka mea, i ka Wolf-Hirschhorn maʻi pale me ka poho i na nā loko. Eia naʻe, ka hapanui pinepine ka mea, e hoi hoʻololi muli i ka pololei ole chromosome mahele. He aha, a laila, hiki ia ia?

1. Loa pinepine poino mai o ka naau, ma laila nō nā'ēheu kēia'ēheu o nā hewa o ke kino.
2. Hiki 'ana o ka pathology i loko o ka hakuʻala. Pinepine cystic dysplasia (ka wā i ke kahua ua Nyos ʻaʻa puʻuwai parenchyma) hypoplasia (underdevelopment a me ke kino e like me ka a pau, a me ka lole). Kākaʻikahi ka malama agenesis hakuʻala, polycystic (ma ka hakuʻala'aʻaʻa e hana mau cysts), pelvic dystopia hakuʻala a me nā maʻi i loko o ka ulu ana o ke kino.
3. Pinepine poino a me ka gastrointestinal'āpana. Mawaena o na pilikia mea kaʻawale aplasia o ka gallbladder (he congenital nele i kona), hernia o ka uuku naʻau liʻiliʻi, ka ka hoʻoneʻe o ka cecum.
4. I ino keʻa-coccygeal kahi e kū nei ka funnel hiki ke hana a irregularly hoʻokino lua.

Ua E hoi e kaulana ia me keia maʻi pale keiki ua hānauʻia me ka loi haʻahaʻa kino ke kaumaha. A me keia mamua o ka mea i ka makuwahine hanau ka pēpē piha makahiki, 40 pule.

noʻonoʻo ulu

Na kekahi hiʻona o Wolf-Hirschhorn maʻi pale? Karyotype, oa ka lākou o nā chromosomes, kāpili, ino. I ka hopena o ia, ma ka hou i ka physical kino kīnā, he mea no hoi noʻonoʻo retardation. Ua hiki e mehana, lōpū ole loa degere. It E e kaulana ia no i maopopo i kaʻaoʻao pathologies, kńnaka i no ka hana ana ma keia ao. Akā, he mea hōʻike i ke hoʻomōhala hypoplasia o ka cerebellum a kino callosum, i loli ai ka maʻamau hana o ka lolo. I ka Ia manawa, ua e hoailona oukou i kekahi manawa nā mea maʻi i loa mehana noʻonoʻo retardation, no laila, ua mau keiki ke coexistʻanoʻokoʻa ma loko o kēia hui, e socialize.

ʻike,

Pehea la e hiki ai oe i ka hoʻoholo 'ana i ka Wolf-Hirschhorn maʻi pale? Kumu e manao ia i kekahi mea ua hewa na kumu o ka hailona. Ka mua mea i kokoke mai i ka noonoo ana o ka obstetrician - ka hanau ke kaumaha. Children ka poe i lawe i kēiaʻike, ma hope, i hānauʻia me ka loi haʻahaʻa kino ke kaupaonaʻana, mai ka 2 kg. Nō hoʻi, ke kumu e kanalua ai i ka maʻamau kūpono 'ana o ke keiki o ka helehelena o ke keiki. Inā mākou e kamailio e pili ana i kaʻike,, laila ka mea, ua differentiated ma laua me kaʻike, a Patau maʻi pale (ke alo i loko o keena o keu 13th chromosome i ke kumu like symptoms). Naʻe, i loko o keia hihia, aole e lilo i kekahi mea nui e pono ai, e like me, no ka mea hoike, i ke alo o ka ho'ākāka 'ia lauana ma luna o kaʻili, i kapaʻia ma ka lāʻau lapaʻau Dermatoglyphics.

kālailai

No kaʻike, hana cytogenetic study, ma i Ho'ākāka 'o ka' aʻe 'ana o chromosomes. Ma keia hihia, ai kaʻike, ua hookupaa iho la ia ia ma kahi o 60% o ka hihia. Subspecies like o ka ai-i kapaia ano o ka iʻa, kauka hooholo i hoʻokoe '-ilepili chromosomal kulana i loko o ka DNA.

Other haʻawina i e hāʻawi wale, e kuhikuhi i 'aʻe' ana i ka na nā loko, i ka pathology i loko o kā lākou ulu. No laila, no ka mea, i kēia e pono i electrocardiogram a me ka echocardiography, ultrasound, X-Ray, HI paha MRI.

lapaʻau

No hoi e manao i ka Wolf-Hirschhorn maʻi pale. Iapaau ana o keia pilikia - i ka mea pono ia e hai. E like me ua lilo akaka, ia mea he congenital aaiaoe kāna hana, e Makuakane me i ua ole loa lanakila. Ma muli o ia hana, aole ia i nei. Eia naʻe, kauka symptomatic Inc, e kauoha ana hoʻoikaikaʻana e kākoʻo i ka maʻamau hana o ka poino nā loko. Nō hoʻi ma kēia pukana hōʻike aaiaoe aʻoaʻo 'ia. I ka Ia manawa kaupaona i nā i ka makuwahine, a me ka makua kāne i ke keiki a 'Isaaka. I kekahi manawa ka mea, hiki ke hōʻikeʻoki kino no ka normalization o incorrectly Hawaiʻi kūloko ma nā loko.

Kēla o nā mea maʻi ma luna o ke ola

Pehea pilikia o ka Wolf-Hirschhorn maʻi pale? Photo o nā mea maʻi i kēiaʻike, paipai i na keiki me kēia pilikia pinepine nana okoa mai maʻamau kanaka. Ua Radio He nui kūlana i loko o ka socialization o ke kanaka. Eia naʻe, pinepine kanaka me kēiaʻike, me ka hopena i loa hana lala o ke kaiāulu. It E e hoʻomaopopo i ka mea kiʻekiʻe loa pilikia o ka make keiki - i loko o ka makahiki mua o ke ola. He oi loa oiaio inā he meaʻino i ka naau. I ka lā, i ko kakou aupuni kākau hihia o ka longevity me keia pathology. Kēia kanaka i hiki ke komo i 25 makahiki o ka makahiki. Eia naʻe, ua hihia i'āina pohihihi keia. Kauka e olelo aku i kekahi o ka hoʻomanawanui iki mai (keiki keiki) make ma mua hooulu ana i na ia o kaʻike,. No laila, ua make nei mai i ka makahiki mua o ke ola, keiki ke e nui kiʻekiʻe me keia pathology mua i manaoia i keia la.