ʻO ka mea e ʻōlelo ʻo "trisomy" ʻo ia ka "trisomy 21" a i ʻole Down syndrome. Eia nō naʻe, ʻo ka trisomy kahi mea ʻino chromosomal a i ʻole aneuploidy (ka mea ʻole i ka helu o nā chromosomes). No laila hiki iā ia ke pili i kekahi o kā mākou 23 mau chromosomes. Ke pili ia i ka lua 21, kamaʻilio mākou e pili ana i ka trisomy 21, ka mea maʻamau. ʻIke ʻia ka mea hope ma ka awelika i ka wā o ka hāpai ʻana o 27 mai 10.000, e like me ka High Authority of Health. Ke pili ia i ka pa 18, he trisomy 18. A pela aku. He kakaikahi loa ka Trisomy 22. ʻO ka pinepine, ʻaʻole hiki ke hoʻomau. ʻO ka wehewehe ʻana me Dr Valérie Malan, cytogeneticist ma ke keʻena Histology-Embryology-Cytogenetics o ka Halemai Necker no nā keiki maʻi (APHP).

ʻO Trisomy 22, e like me nā trisomies ʻē aʻe, he ʻāpana o ka ʻohana o nā maʻi genetic.

Ua manaʻo ʻia he kino kanaka ma waena o 10.000 a me 100.000 billion cell. ʻO kēia mau pūnaewele ka ʻāpana kumu o nā mea ola. I loko o kēlā me kēia cell, he nucleus, i loaʻa i kā mākou hoʻoilina genetic me 23 mau chromosomes. ʻO ia, ma ka huina, 46 chromosomes. Ke kamaʻilio nei mākou no ka trisomy inā ʻaʻole ʻelua mau chromosomes i kekahi o nā paʻa.

"Ma ka trisomy 22, hoʻopau mākou i kahi karyotype me 47 chromosomes, ma kahi o 46, me 3 kope o ka chromosome 22", e kahakaha ana ʻo Dr Malan. "He kakaikahi loa kēia anomaly chromosomal. Ma lalo o 50 mau hihia i paʻi ʻia ma ka honua holoʻokoʻa. "Ua ʻōlelo ʻia kēia mau ʻano ʻino chromosomal he" homogeneous "ke loaʻa lākou i loko o nā cell āpau (ma ka liʻiliʻi o nā mea i kālai ʻia i loko o ka hale hana).

He "mosaic" lākou i ka wā e loaʻa wale ai i kahi ʻāpana o nā pūnaewele. ʻO nā huaʻōlelo ʻē aʻe, ola pū nā cell me 47 chromosomes (me 3 chromosomes 22) me nā cell me 46 chromosomes (me 2 chromosomes 22).

"Hoʻonui ka pinepine me ka makahiki makuahine. ʻO kēia ke kumu pilikia nui i ʻike ʻia.

"Ma ka hapa nui o nā hihia, e hopena kēia i ka hāʻule ʻole," wehewehe ʻo Kauka Malan. "ʻO nā mea ʻino Chromosomal ke kumu o ka 50% o ka hāʻule ʻole ʻana i ka wā mua o ka hāpai ʻana," wahi a Public Health France ma kāna pūnaewele Santepubliquefrance.fr. ʻO ka ʻoiaʻiʻo, ʻo ka hapa nui o nā trisomies 22 e pau i ka hāʻule ʻana no ka mea ʻaʻole hiki ke ola ka embryo.

"ʻO nā trisomies 22 wale nō ka mosaic. Akā hiki mai kēia trisomy me nā hopena koʻikoʻi. "Ke kīnā ʻole o ka naʻau, nā kīnā hānau, nā ʻili ʻili, a pēlā aku."

"ʻO ka pinepine, ʻo ka mosaic trisomies 22 ka mea maʻamau ma waho o ka hāʻule ʻana. ʻO ia ke ʻano o ka chromosomal abnormality aia wale nō ma kahi hapa o nā cell. ʻO ka paʻakikī o ka maʻi e pili ana i ka helu o nā cell me Down's Syndrome a me kahi o kēia mau cell. “Aia kekahi mau hihia kūikawā o ka maʻi maʻi Down i hoʻopaʻa ʻia i ka placenta. I kēia mau hihia, ʻaʻohe pōʻino o ka fetus no ka mea e pili ana ka mea ʻino i ka placenta wale nō. “

"ʻO ka mea i kapa ʻia ʻo homogeneous trisomy 22 ʻoi aku ka maʻalahi. ʻO ia ke ʻano o ka chromosomal abnormality i loko o nā cell āpau. I nā hihia kūikawā kahi e holomua ai ka hāpai ʻana, pōkole loa ke ola a hiki i ka hānau ʻana. “

Hiki i ka Mosaic trisomy 22 ke alakaʻi i nā kīnā he nui. Nui ka ʻokoʻa o nā hōʻailona mai ke kanaka a ke kanaka.

"Hōʻike ʻia e ka ulu ʻana o ka ulu ʻana ma mua a ma hope o ka hānau ʻana, ka hapa nui o ka naʻau, hemi-atrophy, nā mea ʻino o ka ʻili o ka ʻili, ka dysmorphia o ka maka a me nā maʻi ʻole o ka naʻau", nā kikoʻī Orphanet (ma Orpha.net) , ka puka no nā maʻi maʻi a me nā lāʻau makua ʻole. “Ua hōʻike ʻia ka nalo ʻana o ka lohe a me nā hemahema o nā lālā, a me nā maʻi ʻino a me ke kino. “

“ʻIke ʻia nā keiki e pili ana i ke kūkākūkā genetic. Hana pinepine ʻia ka ʻike ma ka hana ʻana i kahi karyotype mai kahi biopsy ʻili no ka mea ʻaʻole ʻike ʻia ka anomaly i loko o ke koko. "Hoʻopili pinepine ʻia ʻo Trisomy 22 me nā ʻano like ʻole o ka pigmentation. “

ʻAʻohe lāʻau lapaʻau no ka trisomy 22. Akā ʻo ka hoʻokele "multidisciplinary" e hoʻomaikaʻi i ka maikaʻi o ke ola, a hoʻonui pū i ka manaʻolana o ke ola.

"Ma muli o nā malformations i ʻike ʻia, e hoʻopili ʻia ka mālama ʻana. »E hiki ke hoʻopili i ka geneticist, cardiologist, neurologist, speech therapist, ENT specialist, ophthalmologist, dermatologist… a me nā loea ʻē aʻe.

“No ke kula, e hoʻololi ʻia. ʻO ka manaʻo e hoʻokumu i ke kākoʻo i ka hikiwawe loa, e hoʻomohala i nā mākaukau o kēia mau keiki i ka hiki. E like me ke keiki maʻamau, e ʻoi aku ka makaʻala o ke keiki me Down's Syndrome ke hoʻoikaika ʻia lākou.