Samedicino seqsologia
XXX – sindromi
sami X sindromi adamiani qromosomuli mdgomareobaa, romlis drosac genomSi warmodgenilia damatebiTi X qromosoma. aseTi adamianebi mdedrobiTi sqesisani arian, maT yovel ujredSi warmodgenilia X X -is nacvlad X X X qromosomebi. SesaZlebelia adamians axasiaTebdes mozaicizmi rac niSnavs imas, rom ujredebis nawilSi aqvs X X, xolo nawilSi X X X qromosomebi.
sami X-is sindroms hqvia: triplo X , X -trisomia, X X X sindromi, 47, X X X aneuploidia.
X X X -sindromi vlindeba daaxloebiT yovel 1000 cocxlad dabadebul gogonas Soris. sxva qromosomuli variaciebis da darRvevebisgan gasxvavebiT X X X qromosomul mdgomareoba xSirad TvaliT SeumCnevelia, aseT adamianebs gansakuTrebuli niSnebi da simptomebi ar aReniSnebaT (mag. daunis sindromisgan gansxvavebiT).
sami X sindromi ar aris Tandayolili, Tumca maTi ganviTareba xdeba spermatozoidebis an kvercxujredis momwifebis periodSi. SeiZleba X qromosomis damateba moxdes adreul embrionuli ganviTarebis periodSi. iseT sam X adamianebs, romlebsac axasiaTebT genetikuri mozaicizmi aRniSnaven Semdegnairad: 46,XX/47,XXX .
radgan qalis organizmSi adgili aqvs lionizacias (xdeba erTi X qromosomis inaqtivacia), aseT adamianebs gansakuTrebuli ganmasxvavebeli paTologiuri niSnebi ar axasiaTebT, Tumca axasiaTebT:
sxeulis maRali figura;
qceviTi problemebi;
daudevroba, gafantuli yuradReba;
susti koordinaciis unari;
saxis Sua zonis hipoplazia;
epikantusi (Tvalis SigniTa kuTxis gansakuTrebuli naoWi, romelic zeda quTuTos gagrZelebas warmoadgens, damaxasiaTebelia mongoloiduri rasisTvis);
amenorea;
patara Tavi;
grZeli saxe;
mcire qveda yba;
arametyveli (indiferentuli) saxe;
kunTebis sisuste;
sakvercxeebis ukmarisoba;
kbilebis emalis hipoplazia;
gonebrivi CamorCena;
unayofoba.
Tumca es niSnebi yvela X X X – sindromiani adamianisTvis ar aris damaxasiaTebeli da mxoloT maT mcire nawils aReniSneba, ZiriTad niSans ki warmoadgens sxeulis gansakuTrebuli simaRle da sxva araferi.
Statiis saxeli : XXX – sindromi
Damatebis tarigi : 08.05.2013|01:09
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