Robertsonian Translocation uye Down Syndrome

Migumisiro yekushandurwa ichi inotarisa kana kana kwete

A Robertsonian translocation imwe yemhando mbiri dze chromosomal translocations. Translocations inoitika apo chimwe chikamu che chromosome chinopera uye chinonamatira pane imwe chromosome. Chromosomes yakaumbwa seyo tsamba x. Nzvimbo yepamusoro yekromosome inozivikanwa sezvombo zvishoma. Maoko mashomanana akabatanidzwa nehafu yepasi, maoko akareba, ne centromere.

Muchikwata cheRobertsonian, maoko mashomanana akavhuniwa uye maoko akareba anosangana pamwe chete ne centromere kusvika kumagumo.

Kuchinja kweRobertsonian kunogona kunge kwakagadzikana kana kusagadzikana. Kuenzanisa kwakanaka kweRobertsonian kutengesa hakuiti zviratidzo, uye hazvibatsiri upenyu hurefu. Vanhu vane rudzi urwu rwekuendesa kune dzimwe nyika vanoonekwa sevatakuri. Kutakura kwekuendesa kweRobertson kune ma chromosomes 45, panzvimbo yevaya vanowanzoita 46. Avo vane maitiro asina kufanana vanogona kunge vane zvinetso zvehutano zvakanyanya pamwe nehupenyu hupfupi. Kana nhamba 21 chromosome inobatanidzwa pakugadzira translocation, izvi zvinogona kukonzera Down syndrome .

Mamwe ma kromosomes chaiwo anogona kuumba raRobertsonian kutumira - chromosomes 13, 14, 15, 21, uye 22.

Zvinokonzera

Muzviitiko zvakawanda, kuchinja kweRobertsonian kunowanzoitika. Translocations inoitika apo mbeu nemazhi (zvinowanzowanzo mazai) zviri kuumba. Hapana chawakaita kuti uite uye hapana chinhu chaungadai wakaita kuti uzvidzivirire.

Mumwe mu 1 000 vanhu anoberekerwa neR Robertsonian translocation.

Chii Chinoitika Kana Ndiri Mutakuri?

Kana iwe uri mutakuri, iwe kazhinji hauzooni chero zviratidzo kusvikira iwe uchiedza uye uine pamuviri. Varume vane hutano hwakanaka hwekuRobertsonian vanowanzova nehuwandu hwemunhu. Zvitakura zvinowedzerawo njodzi yekudzivirira pamuviri.

Vanhu vane maoko marefu maviri echromosome imwechete - 13:13, 14, 14, 15; 15, 21; 21, uye 22; 22 - ichabereka mbeu nemayai nema chromosomes asina kukwana, zvichiita kuti zvibvirire nguva yakazara pamuviri kuitika.

Nevamwe vatakuri, kune mimwe mikana inokwana yekuita pamuviri:

1. Mucheche nemwana zvose zviri zvekare. Iyo mimba inotorwa kusvika kumwana uye mwana anoberekwa ane makero makumi mana emazuva ose.
2. Mucheche ndeyezvokwadi asi mwana ane hutano hwakanaka hweRobertsonian. Munyaya iyi, mwana (semubereki wavo) anotakura shanduko uye haana hutano hunoonekwa kana hunobudirira.
3. Mwana anozvarwa ane chirwere chromosome. Muzviitiko zvakawanda, vacheche vanoberekwa vane translocation Down syndrome.
4. Muchembera inoguma nekuparara kwepamuviri kana kusatombogadzikana zvakakwana. Kana chirume kana kuti mazai asina ma kromosomes akaenzana, kuberekwa kunogona kusakwanisa kuumba zvakanaka, kusaputsika, kana kuti kuita kuti pave nekuberekwa.

Kana iwe ukatakura kuendeswa kweRobertsonian uye uri kuedza kutora pamuviri, taura kune mazita ekugadzira mazita kuti udzidze zvakawanda pamusoro pehutano hwako, kunyanya.

Unbalanced Robertsonian Translocations

ARobertsonian translocation inogona kubudisa hutano uye hukuremara kubudirira kana isina kukwana.

Rudzi rwakawandisa rwekusagadzikana kwekuendesa kune imwe nzvimbo inotapira Down syndrome. Translocation Down syndrome inounza zviratidzo zvakafanana uye maitiro ekugara Down syndrome. Mumutauro weTrans syndrome, mwana ane makopi matatu erefu refu ye chromosome 21 panzvimbo yeviri. Vana vazhinji vane rudzi urwu rwe Down syndrome vanoberekerwa vabereki vanoita zvechromosomally. Kunyange zvakadaro, vatakuri vemagetsi vanogona, zvishoma, kazhinji, vane vana vane rudzi urwu rwe Down syndrome zvakare.

Zvimwe zvisina kukodzera kuchinja kwaRobertsonian zvinosanganisira kutumira trisomy 13, inokonzera Patau syndrome; uniparental disomy, zvinoita kuti chromosome iedze kuzviruramisa; akaruramisa chromosome 14, iyo inogona kukonzera kukurumidza kusimbisa; uye akagadzirisa chromosome 15, iyo inogona kukonzera zviratidzo zvakafanana ne Prader-Willi syndrome kana Angelman syndrome.

_Kunobva:

_{RareChromo. Robertsonian Translocation (2005).}

_{MedicineNet. Tsanangudzo yeRobertsonian Translocation. (2012).}