Ani nani anoti "trisomy" zvinoreva "trisomy 21" kana Down syndrome. Zvisinei, trisomy ichromosomal abnormality kana aneuploidy (kusaenzana muhuwandu hwekromosomes). Naizvozvo inogona kubata chero emapeya edu makumi maviri nematatu emachromosomes. Kana inobata pair 23, tinotaura nezve trisomy 21, inonyanya kuzivikanwa. Iyo yekupedzisira inocherechedzwa paavhareji panguva yekuzvitakura makumi maviri nemanomwe kubva pagumi, maererano neHigh Authority yehutano. Kana iine chekuita peya 18, iri trisomy 18. Uye zvichingodaro. Trisomy 22 inonyanya kushomeka. Kazhinji kazhinji, haigoneki. Tsananguro naDr Valérie Malan, cytogeneticist muHistology-Embryology-Cytogenetics dhipatimendi reNecker Hospital yeVana Vanorwara (APHP).

Trisomy 22 ndeye, semamwe trisomies, chikamu chemhuri yezvirwere zvemajini.

Muviri wemunhu unofungidzirwa kuva nemasero ari pakati pe10.000 ne100.000 bhiriyoni. Masero aya ndiwo chikamu chikuru chezvipenyu. Musero rega rega, nucleus, ine genetic nhaka yedu ine 23 mapeya emakromosomes. Ndiko kuti, pamwe chete, 46 chromosomes. Isu tinotaura nezve trisomy kana imwe yevaviri isina maviri, asi matatu machromosomes.

"Mu trisomy 22, tinopedzisira tave nekaryotype ine 47 chromosomes, pachinzvimbo che46, ine 3 makopi echromosome 22", inotsikisa Dr Malan. "Ichi chromosomal anomaly hachiwanzoitiki. Asingasviki makumi mashanu makesi akaburitswa pasi rese. "Aya machromosomal abnormalities anonzi" ane homogeneous "kana aripo mumaseru ese (angangoita ayo akaongororwa murabhoritari).

Iwo ma "mosaic" kana achingowanikwa muchikamu chemasero. Nemamwe mashoko, maseru ane 47 chromosomes (kusanganisira 3 chromosomes 22) anogarisana nemasero ane 46 chromosomes (kusanganisira 2 chromosomes 22).

“Kuwanda kunowedzera nezera raamai. Ichi ndicho chinonyanya kuzivikanwa chengozi.

“Muzvinoitika zvakawanda zvikurusa, ikoku kuchaguma nokupfupfudzika,” anotsanangura kudaro Dr. Malan. "Chromosomal abnormalities ndiyo honzeri yeinosvika 50% yekubva pamuviri kunongoerekana kwaitika mukati mechikamu chekutanga chenhumbu," inodaro Public Health France panzvimbo yayo Santepubliquefrance.fr. Muchokwadi, matrisomies mazhinji 22 anopera mukubva pamuviri nekuti embryo haigoneki.

"Matatu emhando makumi maviri nemaviri anoshanda chete ndeye mosaic. Asi iyi trisomy inouya nemhedzisiro yakakomba. "Kuremara kwenjere, kuremara kwekuzvarwa, kusagadzikana kweganda, nezvimwe."

“Kazhinji, mosaic trisomies 22 ndiwo anonyanya kuzivikanwa kunze kwekubvisa pamuviri. Izvi zvinoreva kuti chromosomal abnormality inongowanikwa muchikamu chemasero. Kuoma kwechirwere ichi kunoenderana nehuwandu hwemasero ane Down's syndrome uye kuti masero aya ari kupi. “Kune zviitiko zvakakosha zveDown's syndrome zvinongowanikwa muberere. Muzviitiko izvi, "fetus" haina kukuvara nekuti iyo abnormality inobata chete placenta. “

“Iyo inodaidzwa kuti homogeneous trisomy 22 ishoma. Izvi zvinoreva kuti chromosomal abnormality iripo mumaseru ese. Muzviitiko zvisingawanzoitiki apo mimba inokura, kupona kusvika pakuberekwa kupfupi zvikuru. “

Mosaic trisomy 22 inogona kukonzera kuremara kwakawanda. Pane musiyano mukuru wezviratidzo kubva kumunhu kuenda kumunhu.

"Iyo inotaridzwa nekunonoka kukura kwepamberi uye mushure mekusununguka, kazhinji kacho kushomeka kwenjere, hemi-atrophy, ganda remavara, dysmorphia kumeso uye kusagadzikana kwemoyo", Details Orphanet (paOrpha.net) , portal yezvirwere zvisingawanzo uye mishonga yenherera. “Kurasikirwa nekunzwa nekukanganiswa kwemakumbo kwakanzi, itsvo nenhengo dzakavandika. “

"Vana vane hanya vanoonekwa mukubvunzana magene. Kuongororwa kunowanzoitwa nekuita karyotype kubva paganda biopsy nekuti iyo inomaly haina kuwanikwa muropa. "Trisomy 22 inowanzo perekedzwa nehunhu husina kunaka hwekuona pigmentation. “

Iko hakuna mushonga wetrisomy 22. Asi "multidisciplinary" manejimendi inovandudza hupenyu hwehupenyu, uye inowedzerawo tarisiro yehupenyu.

"Zvichienderana nekukanganisa kunenge kwaonekwa, kurapwa kunenge kuri kwemunhu. »Geneticist, cardiologist, neurologist, speech therapist, ENT nyanzvi, ophthalmologist, dermatologist ... uye dzimwe nyanzvi dzakawanda dzichakwanisa kupindira.

“Kana iri yechikoro, ichagadziriswa. Pfungwa iyi ndeyekugadzira rutsigiro nekukasira, kusimudzira hunyanzvi hwevana ava zvakanyanya sezvinobvira. Sezvinoita mwanawo zvake, mwana ane Down's syndrome anongwarira kana akakurudzirwa zvakanyanya.