'O Syndrome Patau

'O ka ma'i Patau ka ma'i o nā ma'i i hana'ia e nā'ano ma'amau o ka chromosome. 'O kēia ma'i i'ike'ia e ka mea i kapa'ia he'anakala - ke hele'ana i kahi'umikumamākolu o ka chromosome.

Ua'ike mua'ia ke'ano chromosomal o kēia ma'i ma 1960 e Kauka Klaus Patau, a ma hope iho ua kapa'ia'o ia. 'O ka ma'i kekahi inoa'ē a'e - "Trisomy 13". 'O ke alapine he ho'okahi kumu no 5 - 7,000 mau keiki hou. Ua'ike'ia ka ma'i i ka manawa like i nā wāhine'elua.

'O ka ho'olālā'ana o kēia mau ma'i pilikino ma muli o ka non-dissociation o nā chromosomes i ka papa hana mīkini (ke'ano o ka mahele pūnaewele no ka emi'ana o ka heluna o nā chromosoma i loko o nā pūnaewele kaikamahine). Ma muli o ka hopena o kēia ka'ina hana, ua'ike'ia he'ekolu'umikumamākolu o ka chromosome i loko o ka chromosome i ho'onohonoho'ia,'o ia ke kumu i kumu'ia o nā ho'ololi a me nā ma'i o ka hānai.

I ka lā, i ka chromosomal pähola 'ana o nā kūpuna mai , aole ia e hōʻoia ana i ka maʻi hiki ke pū i hiki mai ia hanauna aku ia hanauna aku. Mana'o'ia'o ka uhaki i ka hana o ka māhele'ana i nā chromosomes a me kā lākou nonsociation, he hopena ma'amau i hana'ia i ka manawa o ka hu'i'ana o ka pū'ano o ka sperm and the egg at the time of conception.

Ua'ike'ia he ulu nui loa ka hopena o ka hānai e ulu nei i kēia mau ma'i me ka makahiki o ka makuahine. Eia kekahi, ma laila nō noiʻi i nā hualoaʻa i hooiaio i ka manawa kūpono o keia chromosomal anomaly ma lalo o ka hana o ka pāhawewe.

'O ka nui o nā ma'i chromosomal, i ho'opili'ia e nā anomalies helu o nā chromosomes, loa'a nā hō'ike'ike kiko'ī. Ma muli o kēia, hiki ke'ike'ia ka ma'i me ka'ole kahi noi'i hou - i ke'ano o ka hānau hou. 'O ka P synd's Syndrome e pili ana i ia mau ma'i, a ua'ike'ia e nā'ano anomalies he nui o ka ulu'ana.

I loko o kahi keiki hānau hou me ka ma'i Patau, hiki ke'ike'ia kēia mau mea'ino: craniofacial anomalies - microcephaly, ho'opi'i'ia nā i'a o ka'ōpū, nā maka li'ili'i, ka opacity āpau, ka lae mua, ke alahaka o ka ihu, nā'ā'ī o ka lehelehe luna a me ka palale, a me nā hemahema, nā hemahema o ka ho'onui'ana i nā wāwae .

Loa'a i nā keiki hou me ka ma'i Patau, ke hō'ike'ia nā pōpilikia ulu o ka'ōpū, ke kikowaena pūnaewele, nā pu'upa'a, ka na'au, a me nā'ano kino. Loli ana i na keiki e ae mai ka pepeiao kuli, noʻonoʻo retardation, convulsive maʻi pale, hypotonia Muscle.

Ma muli o nā hō'ailona hō'ailona o ka Patau Syndrome, e hō'ike mua'ia kahi diagnostics i mua, ma hope koke iho o ka hānau'ana o ke keiki. 'O ka Ultrasonic scanning hiki i ka'ike'ana o nā hewa'ole o loko, a'o ka hō'oia'ana o ka chromosome e hō'oia i ka hele'ana o kahi mea kūpono'ole chromosomal.

'O ka ma'amau,'o nā keiki i'ike'ia me ka ma'i Patau o ka make i nā malama mua o ke ola ma muli o nā anomalies nui ma nā'ano o nā'ano o loko. He'u'uku o lākou e ola nei i ka makahiki. Eia nō na'e, ola kekahi mau ma'i i nā makahiki he nui, a me ka mālama pono'ana a me ka mālama pono'ana,'o ka noho'ana o ia mau keiki e pi'i a'e i 5-10 mau makahiki. Eia na'e,'o lākou a pau, ma ke'ano he kūlana, e kaumaha ana i ka hohonu o ka ho'i'ana o ka no'ono'o - pono'ole.

No ka lawelawe'ana i ka lā'au lapa'au, ua ho'ohana'ia ma ka ho'opau wale'ana i nā pilikia o ka physiological. 'O ka mea ma'amau, ua hana'ia nā hana ho'oikaika kino o nā'ōpū i loko o ka mālama'ana i nā'oihana kūikawā, a me ka lip and palate plastical surgery. Ma ke koena ia manaʻo hoʻokahi wale nō symptomatic lapaʻau, Kāohiʻana o nā mea palahēhē a me ke anu, meticulous malama.