Ingabe lokhu kungenzeka kumntwana wakho womfana? Ake sifunde nge-47,XYY syndrome (Jacobs Syndrome)!

Bomama nobaba, ngezinye izikhathi uma sibona izinguquko ezincane ezinganeni zethu, lapho ziziphatha ngendlela ehlukile kunezinye izingane, kuyinto evamile ukuzizwa wesaba futhi ukhathazekile, akunjalo? Kodwa akuzona zonke izinguquko eziyinkinga enkulu. Namuhla sizokhuluma ngesimo sofuzo esikhethekile kancane, kodwa esingaphathwa kahle uma siqondwa kahle futhi sinikezwa ukwesekwa okudingekayo. Lokhu kubizwa ngokuthi i-47,XYY syndrome . Abanye baphinde bayibize ngokuthi i-Jacobs Syndrome .

Iyini i-47,XYY syndrome? Kalula nje...

Uyazi ukuthi imizimba yethu yakhiwe ngamaseli amancane. Ngaphakathi kwalawo maseli kukhona ulwazi lwethu lwezakhi zofuzo, olunquma izinto ezifana nokuphakama, umbala, kanye nokuthungwa kwezinwele. Lokhu kuqukethwe emaphaketheni abizwa ngokuthi ama-chromosome .

Ngokuvamile, iseli lesilisa linama-chromosome angu-46. Lokhu kufaka phakathi i-chromosome eyodwa engu-X kanye ne-chromosome eyodwa engu-Y (okungukuthi, engu-46,XY). Kodwa-ke, ingane yesilisa noma umuntu omdala one-syndrome engu-47,XYY une-chromosome eyengeziwe engu-Y emaseli ayo. Lokhu kusho ukuthi inani lakhe eliphelele lama-chromosome lingu-47 (47,XYY). Odokotela nabo babiza lokhu ngokuthi i-XYY ngamafuphi.

Lona umehluko wokuzalwa . Okusho ukuthi, kuyinto eyenzeka ngesikhathi umntwana esesesibelethweni. Kodwa ngokumangazayo, izimpawu zalesi simo zicashile kangangokuthi cishe abantu abayi-10% abanaso bahlolwa ngokunembile. Indlela isimo se-47,XYY esithinta ngayo umuntu ngamunye ihlukile.

Into engcono kakhulu, kubantu abaningi abanalesi simo:

• I- testosterone ye-hormone yesilisa ikhiqizwa ngendlela evamile.
• Ukukhula ngokocansi kwenzeka ngokuvamile ngesikhathi sokuthomba.
• Ukukhiqizwa kwesidoda kanye nokuzala ngokuvamile kuvamile.

Sivame kangakanani lesi simo?

I-XYY syndrome engu-47 iyisimo esingavamile kakhulu. Kulinganiselwa ukuthi sithinta cishe ingane eyodwa kweziyi-1,000 zesilisa ezisanda kuzalwa.

Ziyini izimpawu zesimo se-47,XYY?

Lokhu kuyinto ebaluleke kakhulu. Akuwona wonke umuntu one-47,XYY ozobonisa izimpawu ezifanayo. Abanye abantu bangase bangakhombisi izimpawu ezithile. Abanye bangase babe nezimpawu ezilandelayo noma ngaphezulu ndawonye. Khumbula, ezinye izingane zingase zibe nalezi zimpawu ezicashile kakhulu, yingakho kuvame ukuba nzima ukuzibona.

Izici ezingase zihlobane nentuthuko, ukuziphatha, kanye nempilo yengqondo:

• Ukukhathazeka: Umuzwa oqhubekayo wokwesaba okungadingekile kanye nokungakhululeki.
• Isifuba somoya: Abanye abantwana banamathuba amaningi okuthola isifuba somoya.
• Isifo sokungakwazi ukunaka/sokungasebenzi kahle (ADHD): Ubunzima bokuhlala ugxile, ukushintsha okusheshayo kokunaka, kanye nokuzulazula njalo.
• Isifo se-Autism spectrum (ASD):Izimpawu ezinjengobunzima bokugcina ubudlelwano bomphakathi, ukuxhumana nabanye, nokuphindaphinda izinto ezifanayo ngokuphindaphindiwe.
• Izinkinga zokuziphatha: Ngezinye izikhathi ukuba nolaka ngokungadingekile, ukuba nenkani, nokuthukuthela kalula.
• Ukuthuthukiswa okulibazisekile kwamakhono okunyakaza komzimba: Isibonelo, ukuthatha isikhathi eside kunezinye izingane ukwenza izinto ezifana nokubhala, ukusika ngesikele, noma ukunamathisela izinkinobho zehembe.
• Ukuthuthukiswa okulibazisekile kwamakhono okukhuluma nolimi: Kuthatha isikhathi ukukhuluma ngokuhambisanayo nokuqonda lokho abanye abakushoyo.
• Ukucindezeleka: Umuzwa wokudabuka isikhathi eside nokulahlekelwa isithakazelo kunoma yini.
• Amasende amakhulu: Amasende amakhulu kunokuvamile.
• Ukuthuthumela kwesandla: Ukuthuthumela okuncane ezandleni.
• Ukukhubazeka kokufunda: Ubunzima bokuqonda nokukhumbula umsebenzi wesikole.
• Ukuquleka: Abanye abantu bangase babe nezimo ezifana nokuquleka.

Izimpawu ezibonakalayo ngokomzimba:

• Ukuba mude kunokwesilinganiso: Ngokuvamile ukuphakama kokugcina kungaba ngamafidi angu-6 namasentimitha angu-3 (amamitha angu-1.88) noma ngaphezulu.
• Ikhanda elikhulu (i-macrocephaly): Ikhanda libonakala likhulu kunokujwayelekile.
• I-Orbital hypertelorism: Ibanga eliphakathi kwamehlo likhulu kunelijwayelekile.
• Ukuntuleka kwamandla emisipha (hypotonia): Umuzwa wobuthakathaka emzimbeni, ukuxega okuncane emisipheni.
• Ngokwe-Clinodactyly: Umunwe omncane ugobile ngaphakathi .
• Amazinyo amakhulu kunavamile (macrodontia): Amazinyo amakhulu kunokuvamile ngobukhulu.
• Ukulunywa ngaphansi: Uma isethi engezansi yamazinyo iphambi kwesethi engenhla yamazinyo lapho amazinyo evaliwe .
• Izinyawo ezisicaba (pes planus): Izinyawo ezisicaba ezingenakho ukugoba.
• I-Scoliosis: Kungase kubonakale ukugoba komgogodla eceleni.

Okubalulekile: Akuwona wonke umuntu ozoba nazo zonke lezi zimpawu. Abanye abantu bangase babe nezimbalwa nje kuphela, noma bangabi nazo nhlobo. Futhi, lezi zimpawu zingabangelwa ezinye izimo. Ngakho-ke, ungacabangi ngokushesha ukuthi une-47,XYY uma ubona into efana nale.

Amanye amadoda – kodwa hhayi wonke – anesimo se-47,XYY angase abe nobunzima bokukhulelwa ngenxa yesibalo esiphansi sesidoda (i-oligospermia) noma ezinye izinkinga zesidoda.

Yini ebangela i-47,XYY?

Kalula nje, lokhu kungenxa yokuthi kune-chromosome engu-Y eyengeziwe kukhodi yezakhi zofuzo. Lolu shintsho lwenzeka ngaphambi kokuba umntwana azalwe, ngesikhathi esesesibelethweni. Lungenzeka ngezindlela ezimbili:

1.Yilokhu okuvame ukwenzeka: Elinye lamaseli esidoda sikababa line-chromosome engu-Y eyengeziwe. Uma leli seli lesidoda livundisa elinye lamaqanda kamama, wonke amaseli kumbungu ophumayo ane-chromosome engu-Y eyengeziwe.

2. Isimo esingajwayelekile kakhulu yilesi: Ngesikhathi sokukhula kombungu ekuqaleni, amaseli ahlukana ngendlela engavamile. Odokotela bakubiza lokhu ngokuthi i-46,XY/47,XYY mosaicism . Uma lokhu kwenzeka, amanye amaseli omzimba kuphela ane-chromosome ye-Y eyengeziwe.

Lokhu akuyona into ezuzwe njengefa kumama kuyise. Lokhu kubaluleke kakhulu. Esikhathini esiningi, i-chromosome engu-Y eyengeziwe idalwe ngengozi, ngenxa yephutha enkambisweni yokwenza isidoda sikababa. Lesi simo senzeka lapho isidoda esinama-chromosome amabili angu-Y sihlangana neqanda eline-chromosome eyodwa engu-X.

Abacwaningi abakakazi kahle ukuthi kungani lezi zinguquko ze-chromosome zenzeka. Kubonakala sengathi zenzeka ngokungahleliwe. Akucaci nokuthi ukuba ne-chromosome eyengeziwe engu-Y kuhlobene kanjani nezinye zezimo kanye nezici zomzimba okukhulunywe ngazo ngenhla.

Ungasibona kanjani isimo esingu-47,XYY?

Kunezindlela ezimbili eziyinhloko zokuxilonga i-47,XYY:

• Ngaphambi kokuzalwa (ngesikhathi sokukhulelwa): Uma wenza ukuhlolwa ngesikhathi sokukhulelwa, njenge- Noninvasive Prenatal Testing (NIPT) , i-CVS (Chorionic Villus Sampling) , noma i-Amniocentesis , ungathola ukuthi kukhona yini izinguquko kuma-chromosomes e-fetus.
• Ngemva kokuzalwa: Ukuhlolwa kofuzo kungaqinisekisa ukuthi isimo se-47,XYY sikhona yini.

Kodwa ngokumangalisayo, abacwaningi bathi phakathi kuka-85% no-90% wabantu abane-47,XYY abakaze baxilongwe. Lokho kungenxa yokuthi lesi simo ngokuvamile asibangeli izimpawu noma izinkinga ezisobala. Futhi, ngoba izimo ezihlotshaniswa naso (njenge-ADHD nokukhubazeka kokufunda) zingabangelwa ezinye izimo, ukuzelapha kungaphuthelwa imbangela eyisisekelo, 47,XYY. Ngisho noma umuntu exilongwa ene-47,XYY, kuvame ukuba sekwephuzile. Isilinganiso seminyaka yokuxilongwa sicishe sibe yiminyaka eyi-17 ubudala.

Yiziphi izindlela zokwelapha i-47,XYY?

Lokhu kuyinto okudingeka iqondwe. Akukho ukwelashwa okuqondile noma ikhambi le-47,XYY ngoba kuyisimo sofuzo. Kodwa-ke, ukwesekwa kwezokwelapha kanye nokunye ukungenelela kungasetshenziswa ukusiza ukuphatha ezinye izimo nezinkinga ezingase zivele ngenxa yalesi simo.

Ngokwesibonelo:

• Ukwelashwa ngenkulumo: Kuyasiza uma kukhona ukubambezeleka ekuthuthukisweni kwenkulumo nolimi.
• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi: Kusiza ngobuthakathaka bemisipha kanye nezinkinga zokunyakaza kahle komzimba.
• Izinsizakusebenza Zemfundo Ekhethekile:Izingane ezinezinkinga zokufunda zingasizwa esikoleni ngezinto ezifana ne- Individualized Education Plan (IEP) .
• Ukwelapha ngengqondo: Kusiza ngezinkinga zempilo yengqondo (njengokukhathazeka nokucindezeleka) kanye nezinkinga zokuziphatha.
• Imithi: Imithi inganikezwa izimo zomzimba ezifana ne-asthma kanye nesifo sokuwa.
• Ukwelashwa kwamazinyo: Izinkinga zamazinyo (ezifana namazinyo amakhulu kanye nomhlathi ongezansi ovele ngaphandle) zingelashwa.
• Uma unenkinga yokukhulelwa izingane: Ungacela usizo ngokusebenzisa amasu anjengokuvundiswa kwe-in vitro (IVF)` noma `ukujova isidoda nge-Intracytoplasmic (ICSI)` .

Yini okufanele ngiyenze uma ngithola ukuthi ingane yami inesifo esingu-47,XYY?

Uma uthola ngesikhathi sokukhulelwa ukuthi ingane yakho inalesi simo, ungase ushaqeke futhi wesabe. Lokho kuyinto evamile. Kodwa khumbula, indlela lesi sifo esithinta ngayo umuntu ngamunye ihlukile kakhulu. Abantu abaningi bangaphila impilo evamile bengenazo izinkinga eziningi noma bengenazo nhlobo. Akunakwenzeka ukubikezela ngqo ukuthi ingane yakho izothinteka kanjani. Kodwa uma wazi okwengeziwe ngezingozi ezingaba khona enganeni yakho, ungaba ulungele kangcono.

Udokotela wengane yakho cishe uzothatha indlela "yokulinda ubone". Lokhu kusho ukunaka kakhulu intuthuko nokuziphatha kwengane yakho, nokuthatha isinyathelo esifanele uma kukhona ukubambezeleka noma ubunzima (isib., ukubambezeleka kokukhuluma, izimpawu ze-ADHD, ubunzima bokufunda) obubonakalayo.

Njenganoma yimuphi umntwana, kubalulekile ukunaka izindlela zomntwana wakho zomzimba, zengqondo, ngokomzwelo, kanye nokuziphatha. Uma ubona noma yiziphi izinguquko enganeni yakho, khuluma nodokotela wakho ngakho. Uma kunenkinga, uma ungangenelela ngokushesha noma uqale ukwelashwa, kungcono enganeni.

Ngokuvamile, izingane ezineminyaka engu-47,XYY ziphila impilo evamile. Zingase zidinge ukwesekwa okwengeziwe noma ukunakekelwa kwezokwelapha ezindaweni ezithile ngezinye izikhathi. Kodwa-ke, izingane eziningi ezingenayo iminyaka engu-47,XYY nazo zidinga usizo olunjalo ngezinye izikhathi.

Kuthiwani uma ngithola ukuthi ngineminyaka engu-47,XYY ngisemncane noma njengomuntu omdala?

Uma uthola ukuthi unalesi simo, kungakhathaliseki ukuthi usemusha noma kamuva, ungase uzizwe umangale futhi ukhathazekile. Ungase ube nemibuzo eminingi. Lokho kuvamile. Udokotela wakho uzokutshela okwengeziwe ngalesi sifo. Ungase uthole ukuthi lesi sifo "sichaza" ezinye zezinto ezenzeka empilweni yakho. Noma, kungase kube enye incazelo ngawe.

Uma kungenzeka, zama ukuthola iqembu lokusekelana nabanye abantu abane-47,XYY. Ngale ndlela ungafunda kabanzi ngakho futhi uzizwe sengathi awuwedwa onalesi sifo.

Okubalulekile, ukuba ne-47,XYY akukhulisi amathuba okuba ingane yakho ibe nayo. 47,XYY akuyona inkinga ezuzwe njengefa. Nakuba abanye abantu abane-47,XYY benezinkinga zokuthola abantwana, iningi labo alinazo. Uma ukhathazekile ngalokhu, khuluma nodokotela wakho.

Ingakanani iminyaka yokuphila yomuntu onesifo esingu-47,XYY?

Ucwaningo olulodwa lubonise ukuthi amadoda anesimo se-47,XYY angase abe nesikhathi sokuphila esingaphansi ngeminyaka eyi-10 kunamanye amadoda. Abacwaningi bakholelwa ukuthi lokhu kungenzeka kungenxa yokuthi lesi simo singabangela ezinye izimo zezokwelapha (njenge-asthma kanye nesifo sokuwa) kanye nezinkinga zokuziphatha (njengezinkinga zokulawula ukushukuma komzimba).

Ngakho-ke, ukunakekela impilo yakho nokulandela iseluleko sikadokotela wakho kungasiza ekwandiseni isikhathi sakho sokuphila. Bona udokotela wakho njalo bese wenza izivivinyo ezidingekayo.

Ingabe i-47,XYY ingavinjelwa?

Ngeshwa, akukho ongakwenza ukuvimbela lokhu. I-chromosome engu-Y eyengeziwe ibangelwa yisenzakalo esingahleliwe.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuvamile ukuzizwa ukhungathekile uma uthola ukuthi wena noma ingane yakho inesimo se-chromosome esifana ne-XYY syndrome. Ukungazi kahle ukuthi lesi simo sizoyithinta kanjani impilo yakho kungaba yinto enzima. Kodwa ungakhathazeki . Odokotela bakho balapha ukuzokusiza.

Kungakhathaliseki ukuthi watholakala unalesi simo useyingane noma usemdala, ukuqaphela izingozi zakho kanye nezinketho zokwelashwa kungathuthukisa kakhulu ikhwalithi yokuphila kwakho. Into ebaluleke kakhulu ukuthi lokhu akulona iphutha lomuntu, ikakhulukazi hhayi labazali bakho. Ngokusekelwa nokuqonda okudingekayo, ungaphila ngempumelelo nalesi simo. Uma unokungabaza, unganqikazi ukufuna iseluleko sezokwelapha.

` 47, Isifo se-XYY, Isifo sikaJacobs, isimo sofuzo, impilo yabesilisa, ukubambezeleka kokukhula, ukukhubazeka kokufunda, ukuphazamiseka kwe-chromosome