Mosaic trisomy 8, yotchedwanso Warkany syndrome, ndichinthu chromosomal chosazolowereka momwe mumakhala ma chromosome owonjezera 8 m'maselo ena amthupi. Zizindikiro, zoyambitsa, kuchuluka, kuwunika… Chilichonse chomwe muyenera kudziwa za trisomy 8.

Trisomy ndichizoloŵezi chromosomal chodziwika ndi kupezeka kwa chromosome yowonjezera mu ma chromosomes awiri. Zowonadi, mwa anthu, karyotype wabwinobwino (ma chromosomes onse a selo) amakhala ndi ma 23 a ma chromosomes: 22 awiriawiri a chromosomes ndi gulu limodzi la ma chromosomes ogonana (XX mwa atsikana ndi XY mwa anyamata).

Chromosomal zovuta zina zimapangidwa panthawi yopanga umuna. Ambiri mwa iwo amatulutsa mimba zokhazokha panthawi yoyembekezera chifukwa mwana wosabadwayo sangakhale wotheka. Koma muzovuta zina, mwana wosabadwayo amakhala wofunikira ndipo mimba imapitilira mpaka mwanayo atabadwa. Matenda ofala kwambiri pakubadwa ndi ma trisomies 21, 18 ndi 13 komanso mosaic trisomy 8. Matenda a chromosome ogonana nawonso amapezeka kwambiri pamitundu ingapo:

• Trisomy X kapena matenda atatu a X (XXX);
• Le syndrome de Klinefelter (XXY);
• Matenda a Jacob (XYY).

Mosaic trisomy 8 imakhudza pakati pa 1 pa 25 ndi 000 mwa kubadwa 1. Zimakhudza anyamata kuposa atsikana (nthawi 50). Izi zachilendo chromosomal zimawonetsedwa mwa ana mwa kuchepa kwamaganizidwe (nthawi zina) komwe kumalumikizidwa ndi zolakwika kumaso (nkhope ya dysmorphia) ndi zovuta zam'mimba.

Kuchepetsa m'maganizo kumawonetsedwa ndi ulesi mwa ana omwe ali ndi trisomy ya mosaic 8.

Dysmorphia ya nkhope imadziwika ndi:

• mphumi yayitali komanso yotchuka;
• nkhope yayitali;
• mphuno yotakata, yotembenuka;
• mkamwa waukulu wokhala ndi milomo yapadera yapansi, yoluka komanso yopindika panja;
• zikope droopy ndi strabismus diso;
• chibwano chaching'ono chopumira chomwe chimadziwika ndi dimple yopingasa;
• makutu okhala ndi hema wamkulu;
• khosi lalikulu ndi mapewa opapatiza.

Zovuta zakumapeto kwa nthawi zambiri zimakhalanso mwa ana awa (miyendo yama kilabu, hallux valgus, mapangano opindika, mapama akuya ndi mapanga). Mu 40% ya milandu, zovuta za kwamikodzo zimapezeka ndipo mu 25% ya zovuta za mtima ndi zotengera zazikulu.

Anthu omwe ali ndi trisomy 8 yamafuta amakhala ndi chiyembekezo chokhala ndi moyo wopanda zovuta zina. Komabe, kusokonekera kwa chromosomal kumeneku kumawoneka ngati komwe kumanyamula omwe amatenga zotupa za Wilms (chotupa choopsa cha impso mwa ana), myelodysplasias (matenda amfupa) ndi myeloid leukemias (khansa yamagazi).

Chisamaliro chimasiyanasiyana, mwana aliyense ali ndi mavuto enaake. Kuchita opaleshoni yamtima kumatha kuganiziridwa ngati pali zovuta zina zamtima.

Kupatula trisomy 21, kuyezetsa magazi asanabadwe kumatheka chifukwa chakuchita fetal karyotype. Izi ziyenera kuchitika nthawi zonse mogwirizana ndi makolo atakambirana nawo zamankhwala kwa upangiri wa majini. Mayesowa amaperekedwa kwa maanja omwe ali pachiwopsezo chachikulu chazovuta izi:

• mwina chiwopsezo chikuwonekeratu asanatenge mimba chifukwa pali mbiri yabanja yokhudzana ndi chromosomal anomaly;
• mwina chiwopsezo sichidziwika koma kuwunika kwa chromosome asanabadwe (yoperekedwa kwa amayi onse apakati) kuwulula kuti mimba ili mgulu lachiwopsezo kapena zovuta zina zidapezeka pa ultrasound.

Kuzindikira kwa fetal karyotype kumatha kuchitika:

• kapena potenga amniotic fluid kudzera amniocentesis kuyambira masabata 15 oyembekezera;
• kapena pochita choriocentesis yomwe imadziwikanso kuti trophoblast biopsy (kuchotsa khungu loyambirira la placenta) pakati pa masabata 13 mpaka 15 oyembekezera.