Sindrome Ya Triple X

Sindrome ya Triple X, izwi kandi nka trisomy X cyangwa 47,XXX, ni indwara y'impyiko iterwa na gene ikaba iboneka mu gice kimwe cya 1000 cy'abagore. Abagore basanzwe bagira chromosome ebyiri za X muri buri 細胞 - chromosome imwe ya X iva kuri buri mubyeyi. Muri sindrome ya Triple X, umugore agira chromosome eshatu za X.

Abakobwa benshi n'abagore bafite sindrome ya Triple X ntibagira ibimenyetso cyangwa bagira ibimenyetso bike gusa. Mu bandi, ibimenyetso bishobora kugaragara cyane - bishobora kuba birimo gutinda kwaguka no kudakora neza mu kwiga. Kugwa kwa marara n'ibibazo by'impyiko bibaho mu gice gito cy'abakobwa n'abagore bafite sindrome ya Triple X.

Umuti wa sindrome ya Triple X uterwa n'ibimenyetso, niba bihari, n'uburemere bwabyo.

Ibimenyetso n'ibibazo byo mu mubiri bishobora gutandukana cyane mu bakobwa n'abagore bafite triple X syndrome. Abenshi nta ngaruka zigaragara bagira cyangwa bagira ibimenyetso bike gusa.

Kuba muremure kurusha ubugiraka ni bwo buranga bw'umubiri bugaragara cyane. Abakobwa n'abagore benshi bafite triple X syndrome bagira iterambere ry'imyororokere risanzwe kandi bafite ubushobozi bwo gutwita. Bamwe mu bakobwa n'abagore bafite triple X syndrome bafite ubwenge buri mu rwego rusanzwe, ariko bushobora kuba buke gato ugereranyije n'abavandimwe babo. Abandi bashobora kugira ubumuga bwo mu mutwe, rimwe na rimwe bagira ibibazo byo mu myitwarire.

Rimwe na rimwe, ibimenyetso bikomeye bishobora kugaragara, bikaba bitandukanye mu bantu. Ibi bimenyetso n'ibibazo bishobora kugaragara nk'ibi:

• Gutinda kw'iterambere ry'ubushobozi bwo kuvuga no kuvuga indimi, ndetse n'ubushobozi bw'imikoreshereze y'umubiri, nko kwicara no kugenda
• Ubumuga bwo kwiga, nko kugira ikibazo cyo gusoma, gusobanukirwa cyangwa imibare
• Ibibazo byo mu myitwarire, nko kudakunda kwicara aho hantu (ADHD) cyangwa ibimenyetso by'indwara zo mu bwonko (autism spectrum disorder)
• Ibibazo byo mu mutwe, nko guhangayika no kwiheba
• Ibibazo byo gukoresha intoki n'amaboko, kwibuka, gufata ibyemezo no gutunganya amakuru

Rimwe na rimwe abakobwa n'abagore bafite triple X syndrome bagira ibi bimenyetso n'ibibazo:

• Umuntu ufite imikunwe y'uruhu ikingira impande z'imbere z'amaso (epicanthal folds)
• Amaso atandukanye cyane
• Imyanya y'intoki z'igikumwe ikubye
• Amaguru y'amaguru y'amaguru
• Igituza gifite ishusho y'igikumwe imbere
• Imbogamizi z'imitsi (hypotonia)
• Ibitero by'indwara z'ubwonko
• Ibibazo by'impyiko
• Amagi adakora neza mu gihe cy'ubuto (premature ovarian failure)

Niba uhangayikishijwe n'ibimenyetso cyangwa ibimenyetso, hamagara umuganga wawe w'umuryango cyangwa umuganga w'abana, kugira ngo agufashe kumenya icyabiteye, maze agufashe gufata ingamba zikwiye.

Nubwo sindrome ya Triple X ari iy'umuzuko, akenshi ntiragenderwaho - iterwa n'ikosa ry'umuzuko ridasanzwe.

Ubusanzwe, abantu bagira chromosome 46 muri buri selile, zikaba ziteguwe mu matsinda 23, harimo na chromosome ebyiri z'igitsina. Umurima umwe wa chromosome uturuka kuri nyina undi ukaturuka kuri se. Izi chromosome zirimo gene, zikaba zifite amabwiriza agena byose kuva ku kureba kweruye kugeza ku ibara ry'amaso.

Ururimi rwa chromosome z'igitsina - XX cyangwa XY - rigena igitsina cy'umwana. Nyina ashobora guha umwana chromosome X gusa, ariko se ashobora guha chromosome X cyangwa Y:

• Niba umwana ahabwa chromosome X na se, uruhererekane rwa XX rutuma umwana aba umukobwa mu buryo bw'umuzuko.
• Niba umwana ahabwa chromosome Y na se, uruhererekane rwa XY bivuze ko umwana ari umuhungu mu buryo bw'umuzuko.

Abakobwa bafite sindrome ya Triple X bagira chromosome ya gatatu ya X iterwa n'ikosa ridasanzwe mu kugabana kw'iselile. Iki kosa gishobora kubaho mbere y'uko umwana atwitwa cyangwa hakiri kare mu iterambere ry'umwana, bigatuma haboneka imwe muri iyi mibare ya sindrome ya Triple X:

• Nondisjunction. Mu bihe byinshi, iselile y'igi cyangwa iselile y'intanga ya se iragabana nabi, bigatuma umwana agira chromosome ya X yiyongereyeho. Iki kosa ridasanzwe kitwa nondisjunction, kandi buri selile mu mubiri w'umwana izagira chromosome ya X yiyongereyeho.
• Mosaic. Rimwe na rimwe, chromosome yiyongereyeho iterwa no kugabana nabi kw'iselile biterwa n'ibyabaye bitunguranye hakiri kare mu iterambere ry'umwana. Niba ari uko bimeze, umwana agira sindrome ya Triple X ya mosaic, kandi zimwe mu selile gusa zigira chromosome ya X yiyongereyeho. Abakobwa bafite iyi sindrome ya mosaic bashobora kugira ibimenyetso bidashyitse.

Sindrome ya Triple X izwi kandi nka sindrome ya 47,XXX kuko chromosome ya X yiyongereyeho ituma habaho chromosome 47 muri buri selile aho kuba 46 zisanzwe.

Nubwo abagore bamwe bashobora kudashobora kugira ibimenyetso cyangwa bagira ibimenyetso bike bijyanye na triple X syndrome, abandi bagira ibibazo byo gutera imbere, ibibazo byo mu mutwe n'imyitwarire bishobora gutera ibindi bibazo bitandukanye, birimo:

• Ibibazo byo mu kazi, ku ishuri, mu mibanire n'abantu no mu rukundo
• Kugira ikizere cyo mu bintu bike
• Gukeneye ubufasha bwiyongereye cyangwa inkunga mu bijyanye no kwiga, ibikorwa bya buri munsi, ishuri cyangwa akazi

Kuko abana b'abakobwa n'abagore benshi bafite syndrome ya triple X bafite ubuzima bwiza kandi nta bimenyetso by'iyi ndwara bigaragara, bashobora kutabona ubuvuzi ubuzima bwabo bwose, cyangwa ubuvuzi bushobora kuboneka mu gihe basuzumwa ibindi bibazo. Syndrome ya Triple X ishobora kandi kuvumburwa mu isuzuma ryo mu nda kugira ngo hamenyekane izindi ndwara ziterwa na gene. Mu gihe cyo gutwita, igice cy'amaraso y'umubyeyi gishobora gupimwa kugira ngo hamenyekane ADN y'umwana. Niba ibizamini bigaragaje ko hari ibyago byiyongereye bya syndrome ya triple X, igice cy'amazi cyangwa umubiri wo mu nda gishobora gutoranywa. Isuzuma rya gene ry'amazi cyangwa umubiri bizerekana niba hari chromosome ya X yiyongereye, iya gatatu. Niba syndrome ya triple X ikekwako nyuma yo kuvuka hashingiwe ku bimenyetso, ishobora kwemezwa hakoreshejwe isuzuma rya gene. Usibye isuzuma rya gene, inama y'abaganga b'inzobere mu bya gene ishobora kugufasha kubona amakuru arambuye yerekeye syndrome ya triple X.