Trisomy 8: duk abin da kuke buƙatar sani game da wannan cutar da ke shafar yara

Trisomy 8: duk abin da kuke buƙatar sani game da wannan cutar da ke shafar yara

Mosaic trisomy 8, wanda kuma ake kira Warkany Syndrome, cuta ce ta chromosomal wacce a cikinta akwai ƙarin chromosome 8 a cikin wasu sel na jiki. Alamomi, haddasawa, aukuwa, dubawa… Duk abin da kuke buƙatar sani game da trisomy 8.

Menene Ciwon Down?

Trisomy cuta ce ta chromosomal wacce ke da alaƙa da kasancewar ƙarin chromosome a cikin nau'ikan chromosomes biyu. Tabbas, a cikin mutane, karyotype na al'ada (dukkan chromosomes na tantanin halitta) ya ƙunshi nau'i-nau'i 23 na chromosomes: 22 nau'i-nau'i na chromosomes da nau'i biyu na chromosomes na jima'i (XX a cikin 'yan mata da XY a cikin maza).

Abubuwan da ba su da kyau na Chromosomal suna faruwa a lokacin hadi. Yawancinsu suna haifar da zubar da ciki ba tare da bata lokaci ba yayin daukar ciki saboda tayin ba zai yiwu ba. Amma a wasu trisomies, tayin yana iya yiwuwa kuma ciki yana ci gaba har sai an haifi jariri. Mafi yawan trisomies a lokacin haihuwa sune trisomi 21, 18 da 13 da mosaic trisomy 8. Jima'i chromosome trisomies suma sun zama ruwan dare tare da yiwuwar haɗuwa da yawa:

  • Trisomy X ko sau uku X ciwo (XXX);
  • Klinefelter ta ciwo (XXY);
  • Yakubu ciwo (XYY).

Menene alamun mosaic trisomy 8? 

Mosaic trisomy 8 yana shafar tsakanin 1 cikin 25 zuwa 000 a cikin 1 haihuwa. Yana shafar yara maza fiye da 'yan mata (fiye da sau 50). Wannan rashin daidaituwa na chromosomal yana bayyana a cikin yara ta hanyar matsakaicin matsakaicin tunani (a wasu lokuta) hade da nakasar fuska (dysmorphia) da kuma rashin daidaituwa na osteoarticular.

Rashin hankali yana bayyana ta hanyar slugginess hali a cikin yara masu mosaic trisomy 8.

Dysmorphia na fuska yana da alaƙa da:

  • babban goshi kuma sananne;
  • da elongated fuska;
  • hanci mai fadi, juyowa;
  • babban baki tare da leɓe na ƙasa na musamman, mai nama kuma mai lanƙwasa a waje;
  • faɗuwar fatar ido da strabismus ido;
  • wani ɗan ƙaramin haɓɓaka wanda aka yi masa alama da dimple a kwance;
  • kunnuwa tare da babban rumfa;
  • wuyansa mai fadi da kunkuntar kafadu.

Abubuwan da ke faruwa na tsattsauran ra'ayi kuma suna da yawa a cikin waɗannan yara (ƙafafun kulob, hallux valgus, flexion contractures, zurfin palmar da folds plantar). A cikin 40% na lokuta, ana lura da rashin daidaituwa na tsarin urinary kuma a cikin 25% na lokuta na rashin daidaituwa na zuciya da manyan tasoshin.

Wane tsawon rayuwa ga waɗannan yaran?

Mutanen da ke da mosaic trisomy 8 suna da tsawon rayuwa na yau da kullun idan babu nakasu mai tsanani. Duk da haka, wannan rashin daidaituwa na chromosomal ya bayyana yana haifar da masu dauke da ciwon daji na Wilms (mummunan ciwon koda a cikin yara), myelodysplasias (cututtukan kasusuwa) da myeloid leukemias (cututtukan jini).

Wane tallafi?

Kulawa yana da nau'i-nau'i daban-daban, kowane yaro yana da takamaiman matsaloli. Za a iya yin la'akari da tiyatar zuciya a gaban rashin iya aiki na zuciya.

Yadda za a gano mosaic trisomy 8?

Baya ga trisomy 21, gwajin ciki don trisomies yana yiwuwa ta hanyar yin karyotype na tayin. Dole ne a yi hakan koyaushe bisa yarjejeniya tare da iyaye bayan shawarwarin likita don shawarwarin kwayoyin halitta. Ana ba da wannan gwajin ga ma'auratan da ke cikin haɗari mai yawa don waɗannan rashin daidaituwa:

  • ko dai hadarin yana yiwuwa kafin fara ciki saboda akwai tarihin iyali na chromosomal anomaly;
  • ko dai hadarin ba shi da tabbas amma gwajin chromosome na haihuwa (wanda aka ba duk mata masu juna biyu) ya nuna cewa ciki yana cikin ƙungiyar haɗari ko kuma an gano rashin daidaituwa akan duban dan tayi.

Ganewar karyotype na tayin za a iya yi:

  • ko ta hanyar shan ruwan amniotic ta hanyar amniocentesis daga makonni 15 na ciki;
  • ko ta hanyar yin choriocentesis wanda kuma ake kira trophoblast biopsy (cire abin da ya riga ya kasance na mahaifa) tsakanin makonni 13 zuwa 15 na ciki.

Leave a Reply