Trisomy 13

ʻO Trisomy 13 (i kapa ʻia ʻo Patau syndrome) kahi maʻi kūlohelohe kahi e loaʻa ai i ke kanaka he 3 kope o nā mea kūmole mai ka chromosome 13, ma kahi o nā kope 2 maʻamau. Kākaʻikahi, hoʻopili ʻia nā mea keu i kahi chromosome (translocation).

Hana ʻia ʻo Trisomy 13 ke hōʻike ʻia ke DNA keu mai ka chromosome 13 i kekahi a i ʻole nā ​​ʻāpana o ke kino.

• Trisomy 13: ke alo o kahi keu (ʻekolu) chromosome 13 i nā hunaola āpau.
• Mosaic trisomy 13: ke alo o kahi keu chromosome 13 i kekahi o nā hunaola.
• Māhele trisomy 13: ke kū ʻana o kahi ʻāpana o kahi keu chromosome 13 i nā keena.

Hoʻopilikia ka mea keu me ka hoʻomohala maʻamau.

Loaʻa ka Trisomy 13 ma kahi o 1 o kēlā me kēia 10,000 keiki hānau hou. ʻAʻole i hoʻoili ʻia ka hapa nui o nā hihia ma o nā ʻohana (hoʻoilina). Akā, ʻo nā hanana i alakaʻi i ka trisomy 13 e hana i ka sperm a i ʻole ka hua manu i hana i ka fetus.

ʻO nā hōʻailona me:

• Lip lehelehe a palate paha
• Nā lima paʻa (me nā manamana waho i luna o nā manamana o loko)
• ʻO nā maka maka paʻa - kuhi pū paha nā maka i hoʻokahi
• Hoʻoiho i ke kani o ka mākala
• ʻO nā manamana hou a me nā manamana wāwae (polydactyly)
• Hernias: umbilical hernia, inguinal hernia
• Hole, hoʻokaʻawale, a i ʻole mahele i ka iris (coloboma)
• Nā pepeiao hoʻohaʻahaʻa
• Kīnā ʻole o ka ʻike, koʻikoʻi
• Nā hemahema o ke poʻo (nalo ka ʻili)
• Ka hopu ʻana i nā maʻi
• ʻAlau palmar paʻa
• Nā iwi kino (limb) abnormalities
• Nā maka liʻiliʻi
• ʻO ke poʻo liʻiliʻi (microcephaly)
• Kaʻi lalo liʻiliʻi (micrognathia)
• Hōʻike ʻikepili ʻole (cryptorchidism)

Hiki i ke pēpē ke loaʻa i hoʻokahi aʻa umbilical i ka wā hānau. Aia kekahi mau hōʻailona o ka maʻi puʻuwai congenital, e like me:

• Ke kau maʻamau o ka puʻuwai i ka ʻaoʻao ʻākau o ka umauma ma kahi o ka hema
• Hewa septal Atrial
• Patent ductus arteriosus
• Hewa septal ʻo Ventricular

Gastrointestinal x-ray a ultrasound paha e hōʻike i ke kaʻapuni o nā kūlohelohe.

Hōʻike ka MRI a i ʻole CT scans o ke poʻo i kahi pilikia me ke ʻano o ka lolo. Kapa ʻia ka pilikia he holoprosencephaly. ʻO ka hui pū ʻana o nā ʻaoʻao 2 o ka lolo.

Hōʻike nā haʻawina Chromosome i ka trisomy 13, trisomy 13 mosaicism, a i ʻole trisomy hapa.

ʻAʻohe mālama kūikawā no trisomy 13. Hoʻololi ka hoʻomaʻamaʻa mai ke keiki a ke keiki a kaukaʻi ʻia i nā ʻōuli kikoʻī.

ʻO nā hui kākoʻo no ka trisomy 13 e komo pū me:

• Kākoʻo Hui no Trisomy 18, 13 a me nā maʻi e pili pū ana (SOFT): trisomy.org
• Hope no Trisomy 13 a me 18: www.hopefortrisomy13and18.org

Ma mua o 90% o nā keiki me ka trisomy 13 e make i ka makahiki mua.

Hoʻomaka koke nā pilikia. ʻO ka hapa nui o nā pēpē me ka trisomy 13 i loaʻa i nā maʻi puʻuwai congenital.

Komo pū nā pilikia:

• Ka pilikia o ka hanu a me ka ʻole o ka hanu ʻana (apnea)
• Kuli ke kuli
• Nā pilikia hānai
• Hewa puʻuwai
• Ka hopu ʻana i nā maʻi
• Nā pilikia ʻike

Kāhea i kāu kahu mālama ola inā loaʻa kāu keiki me trisomy 13 a ke hoʻolālā nei ʻoe e loaʻa kahi keiki hou. Hiki i nā ʻōlelo aʻoaʻo genetic ke kōkua i ka ʻohana e hoʻomaopopo i ke kūlana, ka makaʻu o ka hoʻoilina iā ia, a pehea e mālama ai i ke kanaka.

Hiki ke ʻike ʻia ʻo Trisomy 13 ma mua o ka hānau ʻia ʻana e amniocentesis me nā noiʻi chromosome o nā hunaʻi amniotic.

ʻO nā mākua o nā pēpē me ka trisomy 13 i kumu ʻia e kahi translocation pono e loaʻa i ka hoʻāʻo a me nā ʻōlelo aʻoaʻo. Hiki i kēia ke kōkua iā lākou e makaʻala i nā manawa o ka loaʻa ʻana o kahi keiki ʻē aʻe me kēia maʻi.

Patau syndrome

• Polydactyly - lima o kahi pēpē
• Syndactyly

Bacino CA, Lee B. Cytogenetics. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 98.

ʻO Madan-Khetarpal S, ʻo Arnold G. Nā maʻi genetic a me nā kūlana dysmorphic. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. ʻO Zitelli lāua ʻo Davis 'Atlas o ka Pediatric Physical Diagnosis. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 1.