UMosaic trisomy 8, obizwa nangokuthi iWarkany syndrome, ukungajwayelekile kwe-chromosomal lapho kune-chromosome eyengeziwe engu-8 kumaseli athile omzimba. Izimpawu, izimbangela, izehlakalo, ukuhlolwa… Konke odinga ukukwazi nge-trisomy 8.

I-Trisomy ukungajwayelekile kwe-chromosomal okubonakala ngokuba khona kwe-chromosome eyengeziwe kuma-chromosomes amabili. Ngempela, kubantu, i-karyotype ejwayelekile (wonke ama-chromosomes eseli) iqukethe ama-chromosomes angama-23: ama-chromosomes angama-22 nama-chromosomes amabili ocansi (i-XX emantombazaneni ne-XY kubafana).

Ukukhubazeka kwe-Chromosomal kwakha ngesikhathi sokukhulelwa. Iningi lazo liholela ekukhipheni isisu okuzenzakalelayo ngesikhathi sokukhulelwa ngoba umbungu awusebenzi. Kepha kokunye ukubuna, umbungu uyasebenza futhi ukukhulelwa kuyaqhubeka kuze kube yilapho umntwana ezalwa. Ama-trisomi avame kakhulu lapho kuzalwa ama-trisomi angu-21, 18 no-13 kanye ne-mosaic trisomy 8. Ama-trisomies ocansi e-chromosome nawo ajwayelekile kakhulu ekuhlanganisweni okuningana okungenzeka:

• I-Trisomy X noma i-X syndrome kathathu (XXX);
• I-Klinefelter's syndrome (XXY);
• Isifo sikaJacob (XYY).

I-Mosaic trisomy 8 ithinta phakathi kuka-1 kwabangama-25 kanye nabangu-000 ekuzalweni okukodwa. Ithinta abafana ngaphezu kwamantombazane (izikhathi ezingama-1 ngaphezulu). Lokhu kungahambi kahle kwe-chromosomal kubonakala ezinganeni ngokukhubazeka kwengqondo okulingene (kwezinye izimo) okuhambisana nokukhubazeka ebusweni (i-facial dysmorphia) kanye nokungajwayelekile kwe-osteoarticular.

Ukubuyiselwa emuva kwengqondo kubonakala ngokuziphatha okuvilaphayo ezinganeni ezine-mosaic trisomy 8.

I-dysmorphia yobuso ibonakala nge:

• ibunzi eliphakeme nelivelele;
• ubuso obunwetshiwe;
• ikhala elibanzi, eligobile;
• umlomo omkhulu onodebe oluyingqayizivele olungezansi, olunamanzi nolugobile ngaphandle;
• izinkophe zamehlo kanye ne-strabismus yamehlo;
• isilevu esincane esehlehlisiwe esimakwe yimbotshana evundlile;
• izindlebe ngetende elikhulu;
• intamo ebanzi namahlombe amancane.

Okungafani kwamaphethelo nakho kuvame kakhulu kulezi zingane (izinyawo zeklabhu, i-hallux valgus, izinkontileka ze-flexion, ukugoba kwesundu okujulile kanye nokugoqa kwezitshalo). Ezimweni ezingama-40%, ukungajwayelekile komgudu wokuchama kuyabonwa futhi kumacala angama-25% okungajwayelekile kwenhliziyo nemikhumbi emikhulu.

Abantu abane-mosaic trisomy 8 banesikhathi sokuphila esijwayelekile ngokungabikho kokukhubazeka okukhulu. Kodwa-ke, lokhu kujwayelekile kwe-chromosomal kubonakala kubeka phambili abathwali bamaqhuqhuva eWilms (isimila esibi sezinso ezinganeni), i-myelodysplasias (isifo somnkantsha) kanye ne-myeloid leukemias (umdlavuza wegazi).

Ukunakekelwa kuhlukahlukene, ingane ngayinye inezinkinga ezithile. Ukuhlinzwa kwenhliziyo kungacatshangelwa lapho kukhona okungajwayelekile kwenhliziyo okusebenzayo.

Ngaphandle kwe-trisomy 21, ukuhlolwa kokubeletha ngaphambi kokubeletha kungenzeka ngokwenza i-karyotype yombungu. Lokhu kumele njalo kwenziwe ngokuvumelana nabazali ngemuva kokubonisana nodokotela ukuthola ukwelulekwa ngezakhi zofuzo. Lokhu kuhlolwa kunikezwa imibhangqwana esengozini enkulu yalokhu okungajwayelekile:

• noma ngabe ingozi ibonakala ngaphambi kokuqala kokukhulelwa ngoba kunomlando womndeni we-chromosomal anomaly;
• noma ngabe ingozi ayinakulindeleka kepha ukuhlolwa kwe-chromosome kokubeletha (okunikezwa bonke abesifazane abakhulelwe) kuveze ukuthi ukukhulelwa bekuseqenjini eliyingozi noma okunye ukutholwa okutholakele ku-ultrasound.

Ukufezeka kwe-karyotype ye-fetus kungenziwa:

• noma ngokuthatha i-amniotic fluid nge-amniocentesis kusuka emasontweni ayi-15 okukhulelwa;
• noma ngokwenza i-choriocentesis ebizwa nangokuthi i-trophoblast biopsy (ukususwa kwezicubu zangaphambilini ze-placenta) phakathi kwamasonto ayi-13 kuya kwayi-15 okukhulelwa.