Zamkatimu
Tikamaganizira za Down's syndrome, chinthu choyamba chomwe timaganizira ndi trisomy 21, kapena Down syndrome. Moti tikakamba za munthu amene ali ndi matenda a Down syndrome, timaona kuti ali ndi matenda a Down syndrome.
Komabe, trisomy imatanthawuza koposa zonse kusokonezeka kwa chibadwa, motero kumatha kukhala kosiyanasiyana. Chifukwa chake pali mitundu ingapo ya Down's syndrome.
Kodi Down's syndrome ndi chiyani?
Down's syndrome ndi nkhani yayikulu kwambiri ma chromosomes. Timalankhula za aneuploidy, kapena kungoti chromosomal anomaly. Mwa munthu wabwinobwino, yemwe sadwala matenda a Down's, ma chromosome amapita awiriawiri. Pali ma chromosomes 23 mwa anthu, kapena ma chromosomes 46 onse. Timalankhula za trisomy pamene osachepera awiri awiri alibe awiri, koma ma chromosome atatu.
Kusokonezeka kwa chromosomal kumeneku kumatha kuchitika panthawi yogawa cholowa cha okondedwa awiriwo panthawi yopanga ma gametes (oocyte ndi spermatozoon), ndiye panthawi ya umuna.
Matenda a Down angakhudze ma chromosome awiri aliwonse, chodziwika bwino ndi chomwe chimakhudza ma chromosome a 21. Kunena zowona, pakhoza kukhala ma trisomies ochuluka ngati pali ma chromosome. Mwa anthu okha, trisomies ambiri amathera padera, chifukwa mluza sungathe kukhala ndi moyo. Izi ndizochitika makamaka pa trisomy 16 ndi trisomy 8.
Kodi mitundu yodziwika kwambiri ya Down's syndrome ndi iti?
- Trisomy 21, kapena Down syndrome
Trisomy 21 ndiye pakali pano woyamba anapezeka chifukwa cha majini maganizo akusowa. Ilinso trisomy yodziwika bwino komanso yotheka. Imawonedwa pafupifupi pamiyezi 27 mwa 10 omwe ali ndi pakati ndipo kuchuluka kwake kumawonjezeka ndi zaka za amayi. Pali kubadwa pafupifupi 000 kwa ana omwe ali ndi Down's syndrome pachaka ku France, malinga ndi Lejeune Institute, yomwe imapereka chithandizo chamankhwala ndi m'maganizo kwa omwe akhudzidwa.
Mu trisomy 21, chromosome 21 ili patatu m'malo mwa ziwiri. Koma pali "magulu ang'onoang'ono" ofotokoza trisomy 21:
- trisomy yaulere, yathunthu komanso yofanana 21, yomwe imayimira pafupifupi 95% ya milandu ya trisomy 21: ma chromosome atatu 21 amasiyanitsidwa, ndipo kusokonezeka kunkawoneka m'maselo onse omwe anayesedwa (osachepera omwe amafufuzidwa mu labotale);
- mosaic trisomy 21 : maselo okhala ndi ma chromosome 47 (kuphatikizapo 3 chromosomes 21) amakhala pamodzi ndi maselo omwe ali ndi 46 chromosome kuphatikizapo 2 chromosomes 21. Chigawo cha magulu awiri a maselo chimasiyana kuchokera ku mutu umodzi kupita ku wina ndipo, mwa munthu yemweyo, kuchokera kwa munthu wina kupita kwa wina. chiwalo kapena minofu ku minofu;
- trisomy 21 ndi translocation : karyotype ya genome imawonetsa ma chromosome atatu 21, koma osati onse ophatikizidwa pamodzi. Imodzi mwa ma chromosome atatu 21 imatha mwachitsanzo kukhala ndi ma chromosome awiri 14, kapena 12 ...
Zizindikiro zazikulu za Down's syndrome
« Munthu aliyense amene ali ndi matenda a Down's, choyamba, ndi iye yekha, wapadera, yemwe ali ndi cholowa chonse komanso njira yake yochiritsira jini yochulukirapo. », Tsatanetsatane wa Lejeune Institute. Ngakhale pali kusiyana kwakukulu kwa zizindikiro kuchokera kwa munthu yemwe ali ndi Down's syndrome kupita kwa wina, pali zina zomwe zimafanana ndi thupi ndi maganizo.
Luntha lanzeru ndi lokhazikika, ngakhale litakhala lodziwika bwino kuchokera kwa munthu kupita kwa wina. Palinso zizindikiro zakuthupi: mutu waung'ono ndi wozungulira, khosi laling'ono ndi lalikulu, maso otseguka, strabismus, mizu ya mphuno yosadziwika bwino, manja otopa ndi zala zazifupi ... zobadwa nazo Nthawi zina zimatha kuwonjezeredwa kuzizindikirozi, ndipo zimafunika kuwunika kwambiri zachipatala: mtima, maso, kugaya chakudya, kuwonongeka kwa mafupa ...
Kuti muthane bwino ndi zovuta izi ndikuchepetsa kulumala kwakuthupi ndi m'maganizo, chisamaliro chamitundumitundu cha anthu omwe ali ndi Down's syndrome : geneticists, psychomotor Therapists, physiotherapist, olankhula mawu ...
- Trisomy 13, kapena Patau's syndrome
Trisomy 13 ndi chifukwa cha kukhalapo kwa wachitatu khromozomu 13. Katswiri wa chibadwa wa ku America Klaus Patau anali woyamba kufotokoza izi, mu 1960. Zochitika zake zikuyerekeza pakati pa 1 / 8 ndi 000 / 1 kubadwa. Kusokonezeka kwa majini kumeneku mwatsoka kumakhala ndi zotsatira zowopsa kwa mwana wosabadwayo: kusokonezeka kwaubongo ndi mtima, kusokonekera kwa maso, kuwonongeka kwa mafupa ndi m'mimba…. Ambiri (pafupifupi 15-000%) a ana omwe ali ndi kachilomboka amafa mu utero. Ndipo ngakhale atapulumuka, mwana yemwe ali ndi matenda a Down syndrome amakhalapo chiyembekezo cha moyo chochepa kwambiri, miyezi ingapo mpaka zaka zingapo kutengera zolakwikazo, makamaka pakakhala mosaicism (ma genotypes osiyanasiyana alipo).
- Trisomy 18, kapena Edwards syndrome
Trisomy 18 imasonyeza, monga momwe dzina lake likusonyezera, kukhalapo kwa 18 chromosome yowonjezera. Kusokonezeka kwa majini kumeneku kunafotokozedwa koyamba mu 1960 ndi katswiri wa ku England John H. Edwards. Kupezeka kwa trisomy iyi kukuyerekezeredwa pa 1/6 mpaka 000/1 obadwa. Mu 18% ya milandu, trisomy 95 imayambitsa imfa mu utero, imatsimikizira malo a Orphanet, portal ya matenda osowa. Chifukwa cha vuto lalikulu la mtima, minyewa, kugaya chakudya kapenanso aimpso, makanda omwe ali ndi trisomy 18 nthawi zambiri amamwalira m'chaka chawo choyamba cha moyo. Ndi mosaic kapena translocation trisomy 18, chiyembekezo cha moyo chimakhala chokulirapo, koma sichidutsa kukula.
- Down's syndrome yomwe imakhudza ma chromosome ogonana
Popeza kuti trisomy imatanthauzidwa ndi kukhalapo kwa chromosome yowonjezera mu karyotype, ma chromosome onse amatha kuphatikizidwa, kuphatikizapo ma chromosome ogonana. Komanso pali ma trisomies omwe amakhudza ma chromosome a X kapena XY. Chotsatira chachikulu cha ma trisomieswa ndikukhudza ntchito zomwe zimalumikizidwa ndi ma chromosome ogonana, makamaka kuchuluka kwa mahomoni ogonana ndi ziwalo zoberekera.
Pali mitundu itatu ya trisomy yogonana ya chromosome:
- trisomy X, kapena katatu X syndrome, pamene munthuyo ali ndi ma chromosome atatu a X. Mwana amene ali ndi trisomy imeneyi ndi wamkazi, ndipo sapereka vuto lililonse lalikulu la thanzi. Izi chibadwa anomaly nthawi zambiri zopezedwa akakula, poyesedwa mozama.
- Klinefelter syndrome, kapena XXY trisomy : munthuyo ali ndi ma chromosome a X ndi Y chromosome imodzi. Munthu nthawi zambiri amakhala mwamuna, ndipo wosabereka. Trisomy iyi imayambitsa mavuto azaumoyo, koma palibe zopunduka zazikulu.
- Jacob's syndrome, kapena trisomy 47-XYY : kukhalapo kwa ma chromosome awiri a Y ndi X chromosome imodzi. Munthuyo ndi mwamuna. Kusokonezeka kwa chibadwa sikumayambitsa palibe zizindikiro za khalidwe chachikulu, nthawi zambiri amawonedwa akakula, pa karyotype ikuchitika kwa cholinga china.
Zizindikiro zochepa, zolakwika za majini za X ndi Y chromosomes sizidziwika kawirikawiri. mu chiberekero.
Kumbali ina, ma trisomies ena onse (trisomy 8, 13, 16, 18, 21, 22 ...), ngati satero mwachibadwa chifukwa mowiriza padera, kawirikawiri amaganiziridwa pa ultrasound, kupatsidwa kukula retardation, ntchito nuchal translucency muyeso, trophoblast biopsy, kapena 'an amniocentesis, kuchita karyotype ngati akuganiziridwa trisomy. Ngati trisomy yolepheretsa yatsimikiziridwa, kuthetsa mimba kwachipatala kumaperekedwa ndi gulu lachipatala.