Ngaba oku kungenzeka kumntwana wakho oyinkwenkwe? Masifunde nge-47,XYY syndrome (Jacobs Syndrome)!

Mama nooTata, ngamanye amaxesha xa sibona utshintsho oluncinci ebantwaneni bethu, xa beziphatha ngendlela eyahlukileyo kwabanye abantwana, kuyinto eqhelekileyo ukuziva besoyika kwaye bekhathazekile, akunjalo? Kodwa ayilulo lonke utshintsho oluyingxaki enkulu. Namhlanje siza kuthetha ngemeko yemfuza ekhethekileyo kancinci, kodwa enokulawulwa kakuhle ukuba iqondwa kakuhle kwaye inikwe inkxaso efunekayo. Oku kubizwa ngokuba yi -47,XYY syndrome . Abanye babiza ngokuba yiJacobs Syndrome .

Yintoni i-47,XYY syndrome? Ngamafutshane...

Uyazi ukuba imizimba yethu yenziwe ngeeseli ezincinci. Ngaphakathi kwezo seli kukho ulwazi lwethu lwemfuza, oluchaza izinto ezinje ngobude, umbala, kunye nobume beenwele. Ezi zinto zifumaneka kwiipakethe ezibizwa ngokuba zii-chromosomes .

Ngokwesiqhelo, iseli yesilisa inee-chromosome ezingama-46. Oku kuquka i-chromosome enye ye-X kunye ne-chromosome enye ye-Y (oko kukuthi, i-46,XY). Nangona kunjalo, umntwana okanye umntu omdala oyindoda one-47,XYY syndrome une-chromosome eyongezelelweyo ye-Y kwiiseli zayo. Oku kuthetha ukuba inani elipheleleyo lee-chromosomes zakhe liyi-47 (47,XYY). Oogqirha nabo babiza le nto ngokuthi yi-XYY ngamafutshane.

Lo ngumahluko wokuzalwa . Oko kukuthi, yinto eyenzekayo ngelixa umntwana esesesibelekweni. Kodwa okumangalisayo kukuba, iimpawu zale meko azicacanga kangangokuba malunga ne-10% yabantu abanayo bachongwa ngokuchanekileyo. Indlela imeko ye-47,XYY echaphazela ngayo umntu ngamnye yahlukile.

Eyona nto ilungileyo kukuba, kubantu abaninzi abanale meko:

• I- testosterone yehomoni yamadoda iveliswa ngokuqhelekileyo.
• Uphuhliso lwesondo lwenzeka ngesiqhelo ngexesha lokufikisa.
• Ukuveliswa kwesidoda kunye nokuzala zizinto eziqhelekileyo.

Ixhaphake kangakanani le meko?

I-XYY syndrome ye-47 yimeko engaqhelekanga. Kuqikelelwa ukuba ichaphazela malunga ne-1 kwi-1000 yabantwana abasandul’ ukuzalwa abangamakhwenkwe.

Zithini iimpawu zesifo se-47,XYY?

Le yeyona nto ibalulekileyo. Asinguye wonke umntu one-47,XYY oya kubonisa iimpawu ezifanayo. Abanye abantu basenokungabonakalisi zimpawu zithile. Abanye banokuba nenye okanye ngaphezulu kwezi mpawu zilandelayo kunye. Khumbula, abanye abantwana banokuba nezi mpawu zingacacanga kakhulu, yiyo loo nto kunzima ukuzibona.

Iimpawu ezinokuthi zihambelane nophuhliso, ukuziphatha, kunye nempilo yengqondo:

• Ixhala: Ukuziva uloyiko olungeyomfuneko kunye nokungakhululeki rhoqo.
• Isifuba: Abanye abantwana banamathuba amaninzi okuba nesifo sesifuba.
• Ingxaki yokunqongophala kwengqwalasela/yokusebenza kakhulu (ADHD): Ubunzima bokuhlala ugxile, utshintsho olukhawulezileyo kwingqwalasela, kunye nokusoloko ushukuma.
• Ingxaki ye-Autism spectrum (ASD):Iimpawu ezinje ngobunzima bokugcina ubudlelwane nabantu, ukunxibelelana nabanye, nokuphindaphinda izinto ezifanayo ngokuphindaphindiweyo.
• Iingxaki zokuziphatha: Ngamanye amaxesha ukuba ndlongondlongo ngokungeyomfuneko, ukuba nenkani, nokucaphuka msinya.
• Ukulibaziseka kophuhliso lwezakhono zomzimba ezicothayo: Umzekelo, ukuthatha ixesha elide kunabanye abantwana ukwenza izinto ezifana nokubhala, ukusika ngesikere, okanye ukuqhobosha ihempe.
• Ukulibaziseka kophuhliso lwezakhono zokuthetha nezolwimi: Kuthatha ixesha ukuthetha ngokuhambelanayo nokuqonda oko kuthethwa ngabanye.
• Uxinzelelo: Ukuziva ulusizi ixesha elide kunye nokulahlekelwa ngumdla kuyo nayiphi na into.
• Amasende amakhulu: Amasende amakhulu kunesiqhelo.
• Ukungcangcazela kwezandla: Ukungcangcazela okuncinci ezandleni.
• Ubunzima bokufunda: Ubunzima bokuqonda nokukhumbula umsebenzi wesikolo.
• Ukuxhuzula: Abanye abantu banokudibana neemeko ezifana nokuxhuzula.

Iimpawu ezibonakalayo ngokwasemzimbeni:

• Ukuba mde kunomndilili: Ngokuqhelekileyo ubude bokugqibela bunokuba ziimitha eziyi-1.88 okanye ngaphezulu.
• Intloko enkulu (i-macrocephaly): Intloko ibonakala inkulu kunesiqhelo.
• I-Orbital hypertelorism: Umgama phakathi kwamehlo mkhulu kunowesiqhelo.
• Ukungabikho kwamandla emisipha (hypotonia): Ukuziva ubuthathaka emzimbeni, ukuqhwalela kancinci kwimisipha.
• NgokweClinodactyly: Umnwe omncinci ugobile ngaphakathi .
• Amazinyo amakhulu kunaqhelekileyo (macrodontia): Amazinyo amakhulu kunobukhulu obuqhelekileyo.
• Ukuluma ngaphantsi: Xa amazinyo asezantsi ephambi kwamazinyo aphezulu xa amazinyo evaliwe .
• Iinyawo ezithe tyaba (pes planus): Iinyawo ezithe tyaba ezingenagophe.
• I-Scoliosis: Kunokubonwa ukugoba komqolo ecaleni.

Kubalulekile: Asinguye wonke umntu oza kuba nazo zonke ezi mpawu. Abanye abantu banokuba nazo ezimbalwa kuphela, okanye bangabi nazo kwaphela. Kwakhona, ezi mpawu zinokubangelwa zezinye iimeko. Ngoko ke, musa ukucinga kwangoko ukuba une-47,XYY xa ubona into efana nale.

Amanye amadoda – kodwa kungekhona onke – ane-47,XYY anokuba nobunzima bokukhulelwa abantwana ngenxa yokubala okuphantsi kwesidoda (i-oligospermia) okanye ezinye iingxaki zesidoda.

Yintoni ebangela i-47,XYY?

Ngamafutshane, oku kungenxa yokuba kukho i-chromosome engu-Y eyongezelelweyo kwikhowudi yemfuza. Olu tshintsho lwenzeka ngaphambi kokuba umntwana azalwe, ngelixa esesesibelekweni. Lunokwenzeka ngeendlela ezimbini:

1.Oku kudla ngokwenzeka: Enye yeeseli zesidoda sikatata ine-chromosome eyongezelelweyo engu-Y. Xa le seli yesidoda ichumisa elinye lamaqanda kamama, yonke iseli ekwi-embryo ephumayo ine-chromosome eyongezelelweyo engu-Y.

2. Imeko engaqhelekanga yile: Ngexesha lokukhula komntwana osandul’ ukuzalwa, iiseli zahlukana ngendlela engaqhelekanga. Oogqirha bayibiza le nto ngokuba yi -46,XY/47,XYY mosaicism . Xa oku kusenzeka, ziiseli ezithile zomzimba kuphela ezine-chromosome eyongezelelweyo ye-Y.

Oku akuyonto izuzwe ngumama kutata. Oku kubaluleke kakhulu. Uninzi lwexesha, i-chromosome eyongezelelweyo ye-Y idalwe ngengozi, ngenxa yempazamo kwinkqubo yokwenza isidoda sikatata. Le meko yenzeka xa isidoda esinee-chromosome ezimbini ze-Y sidibana neqanda eline-chromosome enye ye-X.

Abaphandi abakayazi kakuhle ukuba kutheni olu tshintsho lwe-chromosome lwenzeka. Kubonakala ngathi lwenzeka ngokungacwangciswanga. Akucaci nokuba ukuba ne-chromosome eyongezelelweyo ye-Y kunxulunyaniswa njani nezinye zeemeko kunye neempawu zomzimba ezikhankanyiweyo apha ngasentla.

Ungayichonga njani imeko ye-47,XYY?

Kukho iindlela ezimbini eziphambili zokuxilonga i-47,XYY:

• Ngaphambi kokuzalwa (ngexesha lokukhulelwa): Ukuba wenze uvavanyo ngexesha lokukhulelwa, olufana novavanyo lwe-Noninvasive Prenatal Testing (NIPT) , i-CVS (Chorionic Villus Sampling) , okanye i-Amniocentesis , ungafumanisa ukuba kukho naluphi na utshintsho kwii-chromosomes ze-fetus.
• Emva kokuzalwa: Uvavanyo lwemfuza lunokuqinisekisa ukuba imeko ye-47,XYY ikhona na.

Kodwa ngokumangalisayo, abaphandi bathi phakathi kwama-85% nama-90% abantu abane-47,XYY abaze baxilongwe. Kungenxa yokuba le meko ayisoloko ibangela naziphi na iimpawu okanye iingxaki ezicacileyo. Kwakhona, kuba iimeko ezinxulumene nayo (ezifana ne-ADHD kunye nokukhubazeka kokufunda) zinokubangelwa zezinye iimeko, ukunyanga kwazo kunokungayiqondi imbangela eyintloko, i-47,XYY. Nokuba umntu uxilongwe ukuba une-47,XYY, kudla ngokuba sekwephuzile. Ubudala obuqhelekileyo bokuxilongwa bumalunga neminyaka eli-17 ubudala.

Ziziphi iindlela zonyango ze-47,XYY?

Le yinto ekufuneka iqondwe. Akukho nyango okanye unyango oluthe ngqo lwe-47,XYY kuba yimeko yemfuza. Nangona kunjalo, inkxaso yezonyango kunye nezinye iindlela zokungenelela zingasetyenziselwa ukunceda ukulawula ezinye iimeko kunye neengxaki ezinokuvela kule meko.

Umzekelo:

• Unyango lokuthetha: Lunceda xa kukho ukulibaziseka ekuphuhlisweni kwentetho nolwimi.
• Unyango lomzimba kunye nonyango lomsebenzi: Lunceda ubuthathaka bemisipha kunye neengxaki zomzimba.
• Izixhobo zeMfundo eKhethekileyo:Abantwana abaneengxaki zokufunda banokuncedwa esikolweni ngezinto ezifana neSicwangciso seMfundo esiZimeleyo (IEP) .
• Unyango lwengqondo: Lunceda kwiingxaki zempilo yengqondo (ezifana nokuxhalaba nokudakumba) kunye neengxaki zokuziphatha.
• Amayeza: Amayeza anokufumaneka kwiimeko zomzimba ezifana ne-asthma kunye nesifo sokuwa.
• Unyango lwamazinyo: Iingxaki zamazinyo (ezifana namazinyo amakhulu kunye nomhlathi ongezantsi ophumayo) zinokunyangwa.
• Ukuba unengxaki yokukhulelwa abantwana: Ungafuna uncedo ngeendlela ezifana ne -'In vitro fertilization (IVF)' okanye i-'Intracytoplasmic sperm injection (ICSI)' .

Ndingenza ntoni xa ndifumanisa ukuba umntwana wam unesifo se-47,XYY?

Ukuba ufumanisa ngexesha lokukhulelwa ukuba umntwana wakho unale meko, ungothuka kwaye woyike. Yinto eqhelekileyo leyo. Kodwa khumbula, indlela esi sifo esichaphazela ngayo umntu ngamnye yahlukile kakhulu. Abantu abaninzi banokuphila ubomi obuqhelekileyo bengenazo iingxaki okanye bengenazo. Akunakwenzeka ukuqikelela ngokuthe ngqo ukuba umntwana wakho uza kuchaphazeleka njani. Kodwa okukhona usazi ngakumbi ngeengozi kumntwana wakho, kokukhona ulungele ngakumbi.

Ugqirha womntwana wakho usenokuthatha indlela ethi "linda uze ubone". Oku kuthetha ukunikela ingqalelo ekukhuleni nasekuziphatheni komntwana wakho, nokuthatha amanyathelo afanelekileyo ukuba kukho ukulibaziseka okanye ubunzima (umz., ukulibaziseka kokuthetha, iimpawu ze-ADHD, ubunzima bokufunda) obuqatshelwayo.

Njengakumntwana ngamnye, kubalulekile ukuba unikele ingqalelo kwindlela umntwana wakho aziphatha ngayo ngokwasemzimbeni, engqondweni, ngokweemvakalelo, nangokwendlela aziphethe ngayo. Ukuba ubona naluphi na utshintsho kumntwana wakho, thetha nogqirha wakho ngalo mba. Ukuba kukho ingxaki, okukhona ungenelela ngokukhawuleza okanye uqalise unyango, kokukhona kungcono kumntwana.

Ngokwesiqhelo, abantwana abaneminyaka engama-47,XYY baphila ubomi obuqhelekileyo. Basenokufuna inkxaso eyongezelelweyo okanye ingqalelo yezonyango kwiindawo ezithile ngamanye amaxesha. Nangona kunjalo, abantwana abaninzi abangenayo iminyaka engama-47,XYY nabo bayalufuna uncedo olunjalo ngamanye amaxesha.

Kuthekani ukuba ndifumanisa ukuba ndine-47,XYY ndisemncinci okanye ndimdala?

Ukuba ufumanisa ukuba unale meko, nokuba usemncinci okanye kamva, ungaziva umangalisiwe kwaye ukhathazekile. Usenokuba nemibuzo emininzi. Yinto eqhelekileyo leyo. Ugqirha wakho uza kukuxelela okungakumbi ngale syndrome. Usenokufumanisa ukuba le syndrome "ichaza" ezinye zezinto ezenzeka ebomini bakho. Okanye, isenokuba yinkcazo eyahlukileyo ngawe.

Ukuba kunokwenzeka, zama ukufumana iqela lenkxaso elinabanye abantu abane-47,XYY. Ngale ndlela ungafunda okungakumbi ngayo kwaye uzive ngathi awuwedwa onesifo esi.

Okubalulekileyo kukuba, ukuba ne-47,XYY akongezi amathuba okuba umntwana wakho abe nayo. 47,XYY ayilonto izuzwe njengelifa. Nangona abanye abantu abane-47,XYY beneengxaki zokuba nabantwana, uninzi lwabo alunazo. Ukuba ukhathazekile ngale nto, thetha nogqirha wakho.

Ingakanani iminyaka yobomi bomntu one-47,XYY?

Olunye uphando lubonise ukuba amadoda ane-47,XYY anokuba nexesha lokuphila elingaphantsi ngeminyaka eli-10 kunamanye amadoda. Abaphandi bakholelwa ukuba oku kusenokubangelwa kukuba le meko inokubangela ezinye iimeko zempilo (ezifana ne-asthma kunye nesifo sokuwa) kunye neengxaki zokuziphatha (ezifana nokuphazamiseka kokulawula i-impulse).

Ngoko ke, ukunyamekela impilo yakho nokulandela iingcebiso zikagqirha wakho kunokunceda ukwandisa ixesha lakho lokuphila. Bona ugqirha wakho rhoqo kwaye wenze uvavanyo olufunekayo.

Ngaba i-47,XYY ingathintelwa?

Ngelishwa, akukho nto unokuyenza ukuthintela oku. I-chromosome ye-Y eyongezelelweyo ibangelwa sisiganeko esingacwangciswanga.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuqhelekile ukuziva uxinezelekile xa ufumanisa ukuba wena okanye umntwana wakho unesifo se-chromosome esifana ne-XYY syndrome. Ukungazi kakuhle ukuba esi sifo siza kuyichaphazela njani ubomi bakho kunokuba nzima. Kodwa ungakhathazeki . Oogqirha bakho balapha ukukunceda.

Nokuba wafunyaniswa unale meko usengumntwana okanye njengomntu omdala, ukuqaphela iingozi zakho kunye neendlela zonyango kunokuphucula kakhulu umgangatho wobomi bakho. Eyona nto ibalulekileyo kukuba oku akulotyala lomntu, ingakumbi abazali bakho. Ngenkxaso nokuqonda okufunekayo, ungaphila ngempumelelo nale meko. Ukuba unamathandabuzo, ungathandabuzi ukufuna ingcebiso kagqirha.

` 47, Isifo se-XYY, Isifo sikaJacobs, imeko yemfuza, impilo yamadoda, ukulibaziseka kokukhula, ukukhubazeka kokufunda, ukuphazamiseka kwe-chromosome