ʻO ka Mosaic trisomy 8, i kapa ʻia ʻo Warkany syndrome, kahi kino chromosomal kahi e loaʻa ai he 8 chromosome keu i kekahi mau huna o ke kino. Nā ʻōuli, nā kumu, nā hanana, nā kānana ʻana… ʻO nā mea āpau āu e ʻike ai e pili ana i ka trisomy 8.

ʻO Trisomy kahi ʻano kino chromosomal i hōʻike ʻia e ke kū ʻana o kahi chromosome keu i kahi paʻa o nā chromosome. ʻOiaʻiʻo, i loko o nā kānaka, he karyotype maʻamau (nā chromosome āpau o kahi hunaola) he 23 mau pai chromosome: 22 mau chromosome a me hoʻokahi mau chromosome wahine (XX i nā kaikamahine a me XY i nā keikikāne).

Kūkulu nā mea kūpono ʻole Chromosomal i ka manawa o ka momona. ʻO ka hapanui o lākou e hopena i ka ʻōpū wale i ka wā hāpai no ka mea ʻaʻole hiki ke fetus. Akā i kekahi mau trisomies, hiki i ka fetus ke hoʻomau a hāpai ka hāpai ʻana a hiki i ka hānau ʻana o ka pēpē. ʻO nā trisomies maʻamau i ka wā hānau he trisomies 21, 18 a me 13 a me mosaic trisomy

• Trisomy X a i ʻole triple X syndrome (XXX);
• Klinefelter's Syndrome (XXY);
• ʻO Jacob's syndrome (XYY).

Hoʻopili ka Mosaic trisomy 8 ma waena o 1 i 25 a 000 i 1 hānau. Hoʻopili ia i nā keikikāne ma mua o nā kaikamahine (50 mau manawa). Hōʻike ʻia kēia hewa chromosomal i nā keiki e ka hoʻohaʻahaʻa noʻonoʻo liʻiliʻi (i kekahi mau hihia) e pili ana i nā deformities i ka maka (dysmorfina maka) a me nā abnormalities osteoarticular.

Hōʻike ʻia ka noʻonoʻo noʻonoʻo e ka hana lohi i nā keiki me ka mosaic trisomy 8.

Hoʻohālikelike ʻia ka helehelena

• he lae kiʻekiʻe a koʻikoʻi hoʻi;
• ka helehelena elongated;
• he ihu ākea, huli i luna;
• he waha nui me ka lehelehe lalo kūikawā, ʻiʻo a wili i waho;
• ʻōmaʻomaʻo maka a me ka strabismus maka;
• kahi ʻūlū liʻiliʻi i kahakaha ʻia e kahi dimple papamoe;
• nā pepeiao me ka pavilion nui;
• he ʻāʻī ākea a me nā poʻohiwi kūiki.

Hoʻokomo pinepine ʻia nā anomalies o nā ʻāʻī i kēia mau keiki (wawae lāʻau, hallux valgus, kuʻina flexion, palmar hohonu a me nā pā plantar). Ma 40% o nā hihia, ʻike ʻia nā mea kūpono ʻole o ka maʻi urinary a ma 25% o nā hihia o nā abnormalities o ka puʻuwai a me nā moku nui.

Loaʻa i nā poʻe me ka trosaomy mosaic 8 ke ola maʻamau i ka loaʻa ʻole o nā deformities koʻikoʻi. Eia nō naʻe, ʻike ʻia kēia kino chromosomal abnormal i nā mea lawe i Wilms tumors (maʻi maʻi ʻōpū malignant i nā keiki), myelodysplasias (maʻi pūpū iwi) a me nā leukemias myeloid (maʻi ʻaʻai koko).

He multidisciplinary ka mālama, he mau pilikia kikoʻī ko kēlā me kēia keiki. Hiki ke noʻonoʻo ʻia ke kīʻaha puʻuwai ma ke alo o nā ʻano maʻi o ka naʻau operable.

Kaawale mai trisomy 21, hiki ke kānana prenatal no trisomies e ka hana ʻana i kahi karyotype fetal. Pono e hana mau kēia i ka ʻaelike me nā mākua ma hope o ke kūkākūkā olakino ʻana no ka ʻōlelo aʻoaʻo ʻikepili. Hāʻawi ʻia kēia hōʻike i nā kāne ma ka makaʻu nui no kēia mau ʻano ʻē.

• ʻike mua ʻia paha ka pilikia ma mua o ka hoʻomaka ʻana o ka hāpai keiki no ka mea aia kahi moʻolelo ʻohana o ka anomaly chromosomal;
• ʻaʻole ʻike ʻia ka makaʻu akā hōʻike ʻia ka chromosome prenatal (hāʻawi ʻia i nā wahine hāpai āpau) i ka hāpai ʻana i kahi hui pilikia a i ʻole ʻike ʻia nā mea ʻē aʻe ma ka ultrasound.

Hiki ke hana i ka ʻike o ka karyotype fetal:

• aiʻole ma ka lawe ʻana i ka wai amniotic ma o ka amniocentesis mai 15 mau pule o ka hāpai ʻana;
• aiʻole ma o ka hana ʻana i kahi choriocentesis i kapa ʻia hoʻi he biopsy trophoblast (ka wehe ʻana i nā kiko o ka placenta) ma waena o 13 a 15 mau pule o ka hāpai ʻana.