Ke noʻonoʻo mākou i ka Down's Syndrome, ʻo ke ʻano mua a mākou e manaʻo ai trisomy 21, a i ʻole Down syndrome. No laila, ke kamaʻilio mākou e pili ana i kahi kanaka me Down's Syndrome, manaʻo maoli mākou he Down's Syndrome lākou.
Eia naʻe, wehewehe ʻo trisomy ma luna o nā anomaly genetic, a no laila hiki ke lawe i nā ʻano like ʻole. No laila, aia kekahi mau ʻano o Down's Syndrome.
He aha ka maʻi o Down?
ʻO ka maʻi maʻi Down ma luna o nā moʻolelo āpau nā chromosomes. Ke kamaʻilio nei mākou e pili ana i ka aneuploidy, a i ʻole ka anomaly chromosomal maʻalahi. I loko o kahi kanaka maʻamau, ʻaʻole i loaʻa i ka Down's Syndrome, hele ʻelua nā chromosomes. He 23 mau chromosomes i loko o ke kanaka, a i ʻole 46 chromosomes i nā mea a pau. Ke kamaʻilio nei mākou no ka trisomy inā ʻaʻole i loaʻa ʻelua ma ka liʻiliʻi o hoʻokahi, akā ʻekolu chromosomes.
Hiki ke hana ʻia kēia anomaly chromosomal i ka wā o ka hāʻawi ʻana i ka hoʻoilina genetic o nā hoa ʻelua i ka wā o ka hana ʻana o nā gametes (oocyte a me spermatozoon), a laila i ka wā o ka fertilization.
Hiki ke hoʻopilikia i ka maʻi o Down kekahi mau chromosomes, ʻo ka mea i ʻike nui ʻia ʻo ia ka mea e pili ana i ka 21 o nā chromosomes. ʻO ka ʻoiaʻiʻo, hiki ke nui nā trisomies e like me nā pālua o nā chromosomes. I loko o nā kānaka wale nō, ʻO ka hapa nui o nā trisomies e pau i ka hāʻule ʻana, no ka mea, ʻaʻole ola ka embryo. ʻO kēia ka hihia no ka trisomy 16 a me ka trisomy 8.
He aha nā ʻano maʻamau o Down's Syndrome?
- ʻO Trisomy 21, a i ʻole Down Syndrome
ʻO Trisomy 21 ka mea i kēia manawa ʻike mua ʻia ke kumu o ka hemahema noʻonoʻo genetic. ʻO ia hoʻi ka trisomy maʻamau a hiki ke ola. ʻIke ʻia ia ma ka awelika i ka wā o ka hāpai ʻana he 27 mai ka 10 a piʻi kona alapine me ka makahiki makuahine. Aia ma kahi o 000 o ka hānau ʻana o nā keiki me Down's syndrome i kēlā me kēia makahiki ma Farani, e like me ka Lejeune Institute, e hāʻawi ana. kākoʻo olakino a noʻonoʻo i ka poe i hoopilikiaia.
I ka trisomy 21, aia ka chromosome 21 i ka papakolu ma kahi o ʻelua. Akā aia nā "subcategories" e koho i ka trisomy 21:
- manuahi, piha a homogeneous trisomy 21, e hōʻike ana ma kahi o 95% o nā hihia o ka trisomy 21: ua hoʻokaʻawale ʻia nā chromosomes 21 ʻekolu mai kekahi i kekahi, a ua ʻike ʻia ka anomaly ma nā keʻena āpau i nānā ʻia (ma ka liʻiliʻi loa o nā mea i kālai ʻia ma ka hale hana);
- mosaic trisomy 21 : nā pūnaewele me 47 chromosomes (me 3 chromosomes 21) noho pū me nā pūnaewele me 46 chromosomes me 2 chromosomes 21. ʻokoʻa ka māhele o nā ʻāpana ʻelua o nā pūnaewele mai kekahi kumuhana a i kekahi, a i loko o ke kanaka hoʻokahi, mai kekahi kanaka a i kekahi. ke kino a i ʻole ke kino i ke kino;
- trisomy 21 ma ka unuhi : hōʻike ka genome karyotype i ʻekolu chromosomes 21, akā ʻaʻole i hui pū ʻia nā mea a pau. Hiki i kekahi o nā chromosomes 21 ʻekolu me ʻelua mau chromosomes 14, a i ʻole 12 ...
ʻO nā hōʻailona nui o Down's Syndrome
« ʻO kēlā me kēia kanaka me ka maʻi maʻi Down ʻo ia ka mea mua, ʻokoʻa, me kahi hoʻoilina hoʻoilina piha a me kāna ala kumu e kākoʻo ai i kēia keu o nā genes. », Nā kikoʻī o ka Lejeune Institute. ʻOiai he nui ka loli ʻana o nā hōʻailona mai kekahi kanaka me Down's syndrome i kekahi, aia kekahi mau ʻano maʻamau o ke kino a me ka noʻonoʻo.
He mea mau ke kīnā o ka naʻauao, ʻoiai inā ʻoi aku ka liʻiliʻi a i ʻole ka hōʻailona ʻia mai kekahi kanaka i kekahi. Aia kekahi mau hōʻailona kino: ke poʻo liʻiliʻi a poepoe, ka ʻāʻī liʻiliʻi a ākea, nā maka ākea ākea, strabismus, aʻa ʻikeʻole o ka ihu, nā lima puʻupuʻu a me nā manamana lima pōkole… nā pilikia hānau Hiki ke hoʻohui ʻia i kekahi manawa i kēia mau hōʻailona, a koi i ka nānā ʻana i ka lāʻau lapaʻau nui: naʻau, maka, digestive, orthopedic malformations ...
No ka hoʻokō maikaʻi ʻana i kēia mau pilikia a hoʻopaʻa i nā kīnā kino a me ka noʻonoʻo, mālama multidisciplinary no ka poʻe me Down's Syndrome : geneticists, psychomotor therapists, physiotherapists, speech therapists ...
- ʻO Trisomy 13, a i ʻole ka maʻi o Patau
ʻO Trisomy 13 ma muli o ke kū ʻana o kahi kolu chromosome 13. ʻO ka American geneticist Klaus Patau ka mea mua i wehewehe iā ia, i ka makahiki 1960. Ua manaʻo ʻia kona hanana ma waena o 1 / 8 a me 000 / 1 hānau. Eia naʻe, he hopena koʻikoʻi kēia genetic anomaly no ka pēpē i hoʻopilikia ʻia: nā maʻi cerebral a me ka naʻau, nā anomalies o ka maka, nā malformations o ka iwi a me ka ʻōnaehana digestive…. ʻO ka hapa nui (ma kahi o 15-000%) o nā pēpē i hoʻopilikia ʻia e make i utero. A inā ola ʻo ia, loaʻa i kahi pēpē me Down's Syndrome he ola haahaa loa, kekahi mau mahina a hiki i kekahi mau makahiki e pili ana i nā malformations, a ma ke ʻano o ka mosaicism (nā genotypes like ʻole i kēia manawa).
- ʻO Trisomy 18, a i ʻole Edwards syndrome
Hōʻike ʻo Trisomy 18, e like me kona inoa e hōʻike nei, i ka loaʻa ʻana o kahi chromosome 18 keu. Ua hōʻike mua ʻia kēia anomaly genetic i ka makahiki 1960 e ka mea loea Pelekane ʻo John H. Edwards. Kuhi ʻia ka nui o kēia trisomy ma 1/6 a 000/1 hānau. Ma 18% o nā hihia, ʻo ka trisomy 95 ka hopena he make i utero, hōʻoiaʻiʻo i ka Orphanet pūnaewele, puka no nā maʻi laha. Ma muli o ka puʻuwai koʻikoʻi, neurological, digestive a i ʻole renal malformations, make nā keiki hou me ka trisomy 18 i ko lākou makahiki mua o ke ola. Me ka mosaic a translocation trisomy 18, ʻoi aku ka nui o ke ola, akā ʻaʻole ʻoi aku ma mua o ke kanaka makua.
- ʻO ka maʻi o Down e pili ana i nā chromosomes sex
No ka mea, ua wehewehe ʻia ka trisomy e ka loaʻa ʻana o kahi chromosome ʻē aʻe i loko o ka karyotype, hiki ke komo i nā chromosomes āpau, me nā chromosomes sex. Aia kekahi mau trisomies e pili ana i nā chromosomes X a i ʻole XY. ʻO ka hopena nui o kēia mau trisomies e pili ana i nā hana i pili i nā chromosomes sex, ʻo ia hoʻi nā pae o nā hormones sex a me nā ʻano hānau.
ʻEkolu ʻano o ka sex chromosome trisomy:
- trisomy X, a i ʻole triple X syndrome, ke loaa ekolu X chromosomes i ke kanaka. ʻO ke keiki me kēia trisomy he wahine, a ʻaʻohe pilikia olakino. He pinepine kēia anomaly genetic ʻike ʻia i ka wā ʻelemakule, i ka wā o nā hoʻokolokolo hohonu.
- Klinefelter syndrome, a i ʻole XXY trisomy : ʻelua X chromosome a me hoʻokahi chromosome Y. He kāne maʻamau ke kanaka, a momona. Hoʻopilikia kēia trisomy i nā pilikia olakino, akā ʻaʻohe deformes nui.
- ʻO ka maʻi o Jacob, a i ʻole trisomy 47-XYY : ka loaʻa ʻana o ʻelua chromosomes Y a me hoʻokahi chromosome X. He kāne ke kanaka. ʻAʻole kumu kēia anomaly genetic ʻaʻohe hōʻailona hiʻona nui, ʻike pinepine ʻia i ka wā makua, i ka wā o kahi karyotype i hana ʻia no kekahi kumu ʻē aʻe.
ʻO ka hōʻailona liʻiliʻi, ʻaʻole ʻike pinepine ʻia kēia mau genetic abnormalities e pili ana i nā chromosomes X a me Y. i loko o ka ʻōpū.
Ma kekahi ʻaoʻao, ʻo nā trisomies ʻē aʻe (trisomy 8, 13, 16, 18, 21, 22 ...), ina lakou e ole maoli hopena i spontaneous miscarriage, ua maʻamau hoʻopaʻapaʻa ma ultrasound, haawi ulu retardation, ka hoʻohana 'ana nuchal translucency ana, trophoblast biopsy, ai 'ole he amniocentesis, e hana i ka karyotype i ka hihia o ka trisomy i manaʻoʻia. Inā hōʻoia ʻia kahi trisomy hōʻole, ua noi ʻia e ka hui lapaʻau kahi hoʻopau lāʻau o ka hāpai ʻana.