Hiki paha kēia i kāu pēpē keikikāne? E aʻo kākou e pili ana i ka maʻi 47,XYY (Jacobs Syndrome)!

E nā Māmā a me nā Pāpā, i kekahi manawa ke ʻike mākou i nā loli liʻiliʻi i kā mākou mau keiki, ke ʻano ʻokoʻa iki kā lākou hana ʻana mai nā keiki ʻē aʻe, he mea maʻamau ke manaʻo iki i ka makaʻu a me ka hopohopo, ʻeā? Akā, ʻaʻole nā ​​loli a pau he pilikia nui. I kēia lā, e kamaʻilio mākou e pili ana i kahi kūlana genetic i kūikawā iki, akā hiki ke mālama maikaʻi ʻia inā hoʻomaopopo pono ʻia a hāʻawi ʻia ke kākoʻo e pono ai. Ua kapa ʻia kēia he 47,XYY syndrome . Ua kapa pū kekahi iā ia he Jacobs Syndrome .

He aha ka maʻi 47,XYY? I ka pōkole...

Ua ʻike ʻoe ua hana ʻia ko kākou kino me nā ʻāpana liʻiliʻi. Aia i loko o kēlā mau ʻāpana ko kākou ʻike hoʻoilina, ka mea e hoʻoholo ai i nā mea e like me ke kiʻekiʻe, ke kala, a me ke ʻano o ka lauoho. Aia kēia mau mea i loko o nā pūʻolo i kapa ʻia he chromosomes .

ʻO ka maʻamau, he 46 mau chromosome o kahi cell kāne. Hoʻokahi chromosome X a me hoʻokahi chromosome Y kēia (ʻo ia hoʻi, 46,XY). Eia nō naʻe, he keiki kāne a makua paha me ka maʻi 47,XYY he chromosome Y hou aʻe i loko o kona mau cell. ʻO ke ʻano kēia, ʻo kāna helu holoʻokoʻa o nā chromosome he 47 (47,XYY). Kāhea pū nā kauka i kēia XYY no ka pōkole.

He ʻokoʻa hānau kēia. ʻO ia hoʻi, he mea ia e hana ʻia ana i ka wā e noho ana ke pēpē i loko o ka ʻōpū. Akā, ʻo ka mea kupanaha, he maalea loa nā hōʻailona o kēia maʻi a he 10% wale nō o ka poʻe me ia i ʻike pololei ʻia. He ʻokoʻa ke ʻano o ka hopena o ke kūlana 47,XYY i kēlā me kēia kanaka.

ʻO ka mea maikaʻi loa, no nā poʻe he nui me kēia kūlana:

• Hana ʻia ka hormone kāne testosterone ma ke ʻano maʻamau.
• Hiki ke ulu maʻamau ka moekolohe i ka wā ʻōpio.
• He mea maʻamau ka hana ʻana o ka sperm a me ka momona nui.

Pehea ka maʻamau o kēia ʻano?

He maʻi laha ʻole ka maʻi 47,XYY. Ua manaʻo ʻia e pili ana i hoʻokahi i loko o 1,000 mau keikikāne hānau hou.

He aha nā hōʻailona o ke kūlana 47,XYY?

ʻO kēia ka mea nui loa. ʻAʻole e hōʻike nā kānaka a pau me 47,XYY i nā hōʻailona like. ʻAʻole paha e hōʻike kekahi poʻe i kekahi mau hōʻailona kikoʻī. Loaʻa paha i kekahi poʻe hoʻokahi a ʻoi aku paha o kēia mau hōʻailona. E hoʻomanaʻo, hiki i kekahi mau keiki ke loaʻa kēia mau hōʻailona me ka maalea loa, ʻo ia ke kumu e paʻakikī pinepine ai ke ʻike.

Nā ʻano e pili ana paha i ka ulu ʻana, ke ʻano, a me ke olakino noʻonoʻo:

• Hopohopo: He manaʻo mau o ka makaʻu pono ʻole a me ka hopohopo.
• Asthma: ʻOi aku ka nui o ka loaʻa ʻana o ka hānō i kekahi mau keiki.
• Ka maʻi nele i ka nānā ʻana/hyperactivity (ADHD): Paʻakikī i ka noho kālele ʻana, nā loli wikiwiki i ka nānā ʻana, a me ka hoʻomau ʻole i ka hoʻopunipuni.
• Ka maʻi autism spectrum (ASD):Nā hōʻailona e like me ka paʻakikī i ka mālama ʻana i nā pilina pilikanaka, ke kamaʻilio ʻana me nā poʻe ʻē aʻe, a me ka hana hou ʻana i nā mea like.
• Nā pilikia hana: I kekahi manawa he huhū pono ʻole, paʻakikī, a huhū maʻalahi.
• Ka lohi o ka hoʻomohala ʻana o nā mākau motika maikaʻi: No ka laʻana, ʻoi aku ka lōʻihi o ka hana ʻana ma mua o nā keiki ʻē aʻe e like me ke kākau ʻana, ʻokiʻoki me ka ʻokiʻoki, a i ʻole ke pihi ʻana i kahi pālule.
• Ka lohi o ka hoʻomohala ʻana o nā mākau ʻōlelo a me ka ʻōlelo: He manawa pōkole ke kamaʻilio pololei a hoʻomaopopo i ka mea a haʻi e ʻōlelo nei.
• Kaumaha: He manaʻo lōʻihi o ke kaumaha a me ka nalowale o ka hoihoi i kekahi mea.
• Nā testicles i hoʻonui ʻia: Nā testicles i ʻoi aku ka nui ma mua o ka maʻamau.
• Haʻalulu lima: He haʻalulu liʻiliʻi ma nā lima.
• Nā pilikia aʻo: Paʻakikī i ka hoʻomaopopo ʻana a me ka hoʻomanaʻo ʻana i nā hana kula.
• Nā hopu ʻana: Hiki i kekahi poʻe ke loaʻa i nā kūlana e like me ka hopu ʻana.

Nā hōʻailona kino i ʻike ʻia:

• ʻO ke kiʻekiʻe ma mua o ka awelika: ʻO ke kiʻekiʻe hope loa he 6 kapuaʻi 3 ʻīniha (1.88 mika) a ʻoi aku paha.
• Poʻo nui (macrocephaly): ʻIke ʻia ke poʻo he nui aʻe ma mua o ka maʻamau.
• ʻO ka hypertelorism orbital: ʻOi aku ka mamao ma waena o nā maka ma mua o ka maʻamau.
• Ka nele o ka ikaika o nā ʻiʻo (hypotonia): He manaʻo nāwaliwali o ke kino, kahi palupalu iki i nā ʻiʻo.
• Clinodactyly: Ua piʻo ʻia ka manamana lima liʻiliʻi i loko .
• ʻOi aku ka nui ma mua o nā niho maʻamau (macrodontia): Nā niho i ʻoi aku ka nui ma mua o ka nui maʻamau.
• ʻAʻai lalo: I ka wā e kū ai nā niho haʻahaʻa i mua o nā niho o luna, i ka wā e pani ʻia ai nā niho .
• Nā wāwae pālahalaha (pes planus): Nā wāwae pālahalaha me ke kūlou ʻole.
• Scoliosis: Hiki ke ʻike ʻia kahi piʻo ʻaoʻao o ka iwi kuamoʻo.

He mea nui: ʻAʻole e loaʻa i nā kānaka a pau kēia mau hōʻailona a pau. Loaʻa paha i kekahi poʻe kekahi mau hōʻailona wale nō, a ʻaʻohe loa. Eia kekahi, hiki ke hana ʻia kēia mau hōʻailona e nā kūlana ʻē aʻe. No laila, mai manaʻo koke he 47,XYY kou ke ʻike ʻoe i kahi mea e like me kēia.

ʻO kekahi - akā ʻaʻole nā ​​​​kāne āpau - me ke kūlana 47,XYY e loaʻa paha ka pilikia i ka hāpai ʻana i nā keiki ma muli o ka helu sperm haʻahaʻa (oligospermia) a i ʻole nā ​​​​pilikia sperm ʻē aʻe.

He aha ke kumu o 47,XYY?

I ka ʻōlelo maʻalahi, ʻo kēia no ka mea aia kahi chromosome Y keu i loko o ke code genetic. Hana ʻia kēia loli ma mua o ka hānau ʻana o ke pēpē, ʻoiai ʻo ia i loko o ka ʻōpū. Hiki ke hana ʻia ma nā ʻano ʻelua:

1.ʻO kēia ka mea maʻamau e hana ʻia: Loaʻa i kekahi o nā sperm cell o ka makuakāne kahi chromosome Y keu. Ke hoʻomomona kēia sperm cell i kekahi o nā hua o ka makuahine, loaʻa i kēlā me kēia cell i loko o ka embryo ka chromosome Y keu.

2. ʻO kahi kūlana i emi iki ka maʻamau penei: I ka wā o ka ulu ʻana o ka embryonic, māhele like ʻole nā ​​​​​​pūnaewele. Kāhea nā kauka i kēia he 46,XY/47,XYY mosaicism . Ke hana ʻia kēia, aia wale nō kekahi o nā pūnaewele o ke kino i loaʻa ka chromosome Y keu.

ʻAʻole kēia he mea i hoʻoilina ʻia mai ka makuahine a i ka makuakāne. He mea nui loa kēia. ʻO ka hapa nui o ka manawa, hana ʻia ka chromosome Y keu ma kahi hanana, ma muli o kahi hewa i ke kaʻina hana o ka hana ʻana i ka sperm a ka makuakāne. Hana ʻia kēia kūlana i ka wā e hui pū ai kahi sperm me ʻelua mau chromosome Y i kahi hua manu me hoʻokahi chromosome X.

ʻAʻole maopopo i nā kānaka noiʻi ke kumu o kēia mau loli chromosome. Me he mea lā e hana wale ʻia ana lākou. ʻAʻole maopopo hoʻi pehea e pili ai ka loaʻa ʻana o kahi chromosome Y keu i kekahi o nā kūlana a me nā ʻano kino i ʻōlelo ʻia ma luna.

Pehea e ʻike ai i ke kūlana 47,XYY?

ʻElua mau ala nui e ʻike ai i ka maʻi 47,XYY:

• Ma mua o ka hānau ʻana (i ka wā hāpai): Inā loaʻa iā ʻoe kahi hoʻāʻo i ka wā hāpai, e like me ka Noninvasive Prenatal Testing (NIPT) , CVS (Chorionic Villus Sampling) , a i ʻole Amniocentesis , hiki iā ʻoe ke ʻike inā he mau loli i nā chromosomes o ka fetus.
• Ma hope o ka hānau ʻana: Hiki i nā hoʻāʻo genetic ke hōʻoia inā loaʻa ke kūlana 47,XYY.

Akā, he mea kupanaha, ua ʻōlelo nā kānaka noiʻi ʻaʻole i ʻike ʻia ma waena o 85% a me 90% o ka poʻe me 47,XYY. ʻO ia no ka mea, ʻaʻole pinepine ke ʻano i nā hōʻailona a pilikia paha. Eia kekahi, no ka mea, hiki ke hana ʻia nā kūlana e pili ana me ia (e like me ADHD a me nā pilikia aʻo) e nā kūlana ʻē aʻe, hiki i ka mālama ʻana iā lākou ke hala i ke kumu kumu, 47,XYY. ʻOiai inā ʻike ʻia kekahi me 47,XYY, ua lohi pinepine ia. ʻO ka awelika o ka makahiki o ka ʻike ʻana ma kahi o 17 mau makahiki.

He aha nā lāʻau lapaʻau no 47,XYY?

He mea kēia e pono e hoʻomaopopo ʻia. ʻAʻohe lāʻau lapaʻau pololei a lāʻau lapaʻau paha no 47,XYY no ka mea he maʻi hoʻoilina ia. Eia nō naʻe, hiki ke hoʻohana ʻia ke kākoʻo lapaʻau a me nā hana ʻē aʻe e kōkua i ka mālama ʻana i nā maʻi ʻē aʻe a me nā pilikia e kū mai ana mai kēia maʻi.

ʻo kahi laʻana:

• Hoʻōla ʻōlelo: Kōkua inā he mau lohi i ka ulu ʻana o ka ʻōlelo a me ka ʻōlelo.
• Hoʻōla kino a me ka hoʻōla hana: Kōkua me ka nāwaliwali o nā ʻiʻo a me nā pilikia neʻe maikaʻi.
• Nā Kumuwaiwai Hoʻonaʻauao Kūikawā:Hiki ke kōkua ʻia nā keiki me nā pilikia aʻo ma ke kula ma o nā mea e like me ka Hoʻolālā Hoʻonaʻauao Pilikino (IEP) .
• Psychotherapy: Kōkua i nā pilikia olakino noʻonoʻo (e like me ka hopohopo a me ke kaumaha) a me nā pilikia pili i ka nohona.
• Lāʻau lapaʻau: Hiki ke hāʻawi ʻia nā lāʻau lapaʻau no nā maʻi kino e like me ka hānō a me ka maʻi epilepsy.
• Lapaʻau niho: Hiki ke mālama ʻia nā pilikia niho (e like me nā niho nui, ka ʻāwae lalo e kū mai ana).
• Inā pilikia ʻoe i ka hāpai ʻana i nā keiki: Hiki iā ʻoe ke ʻimi i ke kōkua ma o nā ʻano hana e like me ka `In vitro fertilization (IVF)` a i ʻole `Intracytoplasmic sperm injection (ICSI)` .

He aha kaʻu e hana ai inā ʻike wau he maʻi 47,XYY ko kaʻu pēpē?

Inā ʻike ʻoe i ka wā hāpai ua loaʻa i kāu pēpē kēia maʻi, e pūʻiwa paha ʻoe a makaʻu. He mea maʻamau kēlā. Akā e hoʻomanaʻo, ʻokoʻa loa ke ʻano o ka hopena o kēia maʻi i kēlā me kēia kanaka. Hiki i nā kānaka he nui ke ola i kahi ola maʻamau me nā pilikia liʻiliʻi a ʻaʻohe pilikia. He mea hiki ʻole ke wānana pololei pehea e pili ai kāu pēpē. Akā ʻo ka nui o kou ʻike e pili ana i nā pilikia i kāu pēpē, ʻoi aku ka mākaukau hiki iā ʻoe.

E lawe paha ke kauka o kāu keiki i kahi ala "kali a ʻike". ʻO ia hoʻi ke nānā pono ʻana i ka ulu ʻana o kāu keiki a me kāna ʻano, a me ka hana ʻana i nā hana kūpono inā ʻike ʻia kekahi mau lohi a pilikia paha (e laʻa, ka lohi o ka ʻōlelo, nā hōʻailona ADHD, nā pilikia aʻo).

E like me nā keiki āpau, he mea nui e makaʻala i nā ʻano kino, noʻonoʻo, naʻau, a me ke ʻano o kāu keiki. Inā ʻike ʻoe i kekahi mau loli i kāu keiki, e kamaʻilio me kāu kauka e pili ana i ia mea. Inā he pilikia, ʻo ka wikiwiki o kou hiki ke komo a hoʻomaka paha i ka mālama ʻana, ʻoi aku ka maikaʻi no ke keiki.

ʻO ka maʻamau, ke ola nei nā keiki me 47,XYY i ke ola maʻamau. Pono paha lākou i ke kākoʻo hou a i ʻole ka mālama olakino ma kekahi mau wahi i kekahi manawa. Eia nō naʻe, nui nā keiki me ka ʻole o 47,XYY e pono ai i kēlā kōkua i kekahi manawa.

He aha inā ʻike wau he 47,XYY koʻu i koʻu wā ʻōpiopio a i ʻole he kanaka makua?

Inā ʻike ʻoe ua loaʻa iā ʻoe kēia ʻano maʻi, inā paha i kou wā ʻōpiopio a ma hope paha, e kahaha paha ʻoe a hopohopo. Nui paha kāu mau nīnau. He mea maʻamau kēlā. E haʻi hou aku kāu kauka iā ʻoe e pili ana i kēia maʻi. E ʻike paha ʻoe ua "wehewehe" kēia maʻi i kekahi o nā ʻike i kou ola. A i ʻole, he wehewehe ʻē aʻe paha ia nou.

Inā hiki, e ho'āʻo e ʻimi i kahi hui kākoʻo me nā poʻe ʻē aʻe me 47,XYY. Ma kēia ala hiki iā ʻoe ke aʻo hou aʻe e pili ana i ia mea a manaʻo ʻaʻole ʻoe hoʻokahi me kēia hōʻailona.

ʻO ka mea nui, ʻo ka loaʻa ʻana o 47,XYY ʻaʻole ia e hoʻonui i ka manawa e loaʻa ai i kāu keiki. ʻAʻole he maʻi hoʻoilina ʻo 47,XYY. ʻOiai kekahi poʻe me 47,XYY he pilikia ko lākou i ka loaʻa ʻana o nā keiki, ʻaʻole ka hapa nui. Inā ʻoe e hopohopo nei no kēia, e kamaʻilio me kāu kauka.

He aha ke kūlana e ola ai kekahi kanaka me 47,XYY?

Ua hōʻike ʻia kekahi noiʻi he ʻoi aku ka liʻiliʻi o ke ola o nā kāne me ke kūlana 47,XYY ma mua o 10 mau makahiki ma mua o nā kāne ʻē aʻe. Manaʻo nā kānaka noiʻi he kumu paha kēia no ka hiki i ke kūlana ke hoʻoulu i nā kūlana olakino ʻē aʻe (e like me ka hānō a me ka maʻi epilepsy) a me nā pilikia ʻano (e like me nā maʻi kaohi impulse).

No laila, ʻo ka mālama ʻana i kou olakino a me ka hahai ʻana i nā ʻōlelo aʻoaʻo a kāu kauka e hiki ke kōkua i ka hoʻonui ʻana i kou ola. E ʻike pinepine i kāu kauka a e hana i nā hoʻokolohua e pono ai.

Hiki ke pale ʻia ka 47,XYY?

ʻO ka mea pōʻino, ʻaʻohe mea hiki iā ʻoe ke hana e pale aku i kēia. Hoʻokumu ʻia ka chromosome Y keu e kahi hanana kaulele.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He mea maʻamau ke kaumaha ke lohe ʻoe ua loaʻa iā ʻoe a i ʻole kāu keiki kahi maʻi chromosomal e like me ka XYY syndrome. ʻO ka ʻike ʻole pehea e pili ai kēia maʻi i kou ola hiki ke kaumaha. Akā , mai hopohopo . Eia kāu mau kauka e kōkua.

Inā paha ua ʻike ʻia ʻoe me kēia maʻi i kou wā kamaliʻi a i ʻole he kanaka makua, ʻo ka ʻike ʻana i kou mau pilikia a me nā koho lapaʻau e hiki ke hoʻomaikaʻi nui i kou ʻano ola. ʻO ka mea nui loa, ʻaʻole kēia he hewa na kekahi, ʻoiai ʻaʻole na kou mau mākua. Me ke kākoʻo a me ka hoʻomaopopo pono ʻana, hiki iā ʻoe ke ola me kēia maʻi. Inā he kānalua kāu, mai kānalua e ʻimi i ka ʻōlelo aʻo lapaʻau.

` 47, maʻi XYY, maʻi Jacobs, kūlana genetic, olakino kāne, lohi o ka ulu ʻana, kīnā aʻo, maʻi chromosome