Edwards syndrome: maitiro

Edwards syndrome

ari hunhu hweEdward syndrome Izvo zvakafanana nechirwere chakakomba zvikuru. Maererano nehuwandu, vana vanotambura nechirwere ichi havasviki gore rokutanga rehupenyu. Iyo inozivikanwawo se trisomy 18, chirwere chine hurombo hwakanyanya.

Edwards syndrome inozviratidza kuburikidza neakareba akatevedzana ezviratidzo uye kusagadzikana. Izvi zvinodaro nekuti ihosha inochinja kukura kwemuviri wemwana.

Chii chinonzi Edwards syndrome

Chii ichocho hunhu hweEdward syndrome? Chirwere chakajairika icho chakatumidzwa zita rema geneticist akachiwana. Zvinofungidzirwa kuti inobata 1 muvana 5 XNUMX voga voga vanoberekwa, kunyanya vanhukadzi. Edwards syndrome ndeyechipiri pakati pe trisomies, kumashure Down Chirwere.

Edwards syndrome

Chirwere chekuzvarwa nacho chinokonzera kukanganiswa kwemajini. Iko kushandurwa kunoitika chaizvo pachromosome 18, semhedzisiro ye trisomy kana kudzokorora. Nechikonzero ichi, chirwere ichi chinonziwo "trisomy 18". Muzviitiko zvakawanda, mimba haisviki nguva nokuti trisomy pachayo inokonzera kubvisa pamuviri kunongoerekana kwaitika panguva yechipiri neyechitatu trimesters.

Nepo kune huwandu hwezviratidzo. vari vatatu Edwards syndrome subtypes, maererano nenzira iyo trisomy inoitika nayo. Kupfuura nyaya yacho, vanogovera mufananidzo wakashata: muviri wemwana hausi kukura zvakanaka, zvichiita kuti kuve nekuremara kwemuviri kwakawanda. Nhamba idzi dzinozvitaurira: 7,5% chete yevana vanorwara vanorarama kweanopfuura gore.

Mhando dze trisomy

Mukati meiyo syndrome kana shanduko muchromosome, pane zvakasiyana hunhu hweEdward syndrome. Nokudaro, yakakamurwa kuva matatu:

Complete or classic trisomy: ndiyo inonyanya kufarirwa nechirwere ichi, ine trisomy yechromosome 18 iripo mumasero ese emuviri. Ndiyo yakanyanya kuoma subtype pane ese. Chikamu chetrisomy
Irwo rudzi rusingawanzoitiki umo chirwere ichi chinoratidzika uye chinokonzerwa nekusakwana kudhindwa kwekromosome. Kazhinji, zviitiko izvi zvinokonzerwa nekuparara kwechromosome 18 uye kubatanidzwa kwechikamu chakaparadzaniswa kune imwe chromosome. Nekuda kweizvi, zviratidzo zvinosiyana zvakanyanya sezvo zvine hukama nezvikamu zvekromosome zvakadhindwa. Iyi subtype haina kusimba pane yapfuura.

Pakupedzisira, pane mosaic trisomy. iyo inoitika kana imwe chromosome 18 isingawaniki mumasero ose emuviri wemwana, asi mune mamwe makopi maviri uye mune mamwe 2. Kunyange zvazvo munyaya iyi njodzi yekufa nguva isati yakwana ichiri yakakwirira kwazvo, vana vane subtype iyi vanogona vane zviratidzo zvakakomba kana zvinyoro, kana kusavapo zvachose.

Edwards Syndrome Zviratidzo

Pakati pezviratidzo uye maitiro eEdward Syndrome ndeaya anotevera:

  • Kusagadzikana muitsvo.
  • Kusagadzikana kwemoyo.
  • Kunetseka kudya.
  • Esophageal atresia (sophagus haina kubatana nemudumbu)
  • Omphalocele (matumbu anobuda kubva mumuviri kuburikidza neguvhu)
  • Kunetseka kufema
  • Arthrogryposis (kuvapo kwezvibvumirano mumajoini, kunyanya mumagumo).
Angelman chirwere
Nyaya inoenderana:
Chii chinonzi Angelman syndrome
  • Kushaikwa kwekukura mushure mekusununguka uye kunonoka kukura.
  • Cysts muchoroid plexuses, iyo inobudisa cerebrospinal fluid; Izvo hazvikonzeri matambudziko asi chiratidzo chekuzvarwa kweEdward syndrome.
  • Microcephaly.
  • Micrognathia (mandible idiki pane yaitarisirwa).
  • Harelip
  • Kukanganisa munzeve.
  • Maziso akafaranuka, madiki, akarembera emaziso.
  • Chipfuva chinobuda munzvimbo ye sternum.
  • Abnormally pfupi sternum
  • Kusavapo kweradius, iri pamberi peruoko.
  • Maoko akavharwa nekupetwa nezvigunwe zvakadarikidzana.
  • Zvigunwe nezvipikiri zvisina kukura.
  • Convex tsoka
  • Kuvapo kwetambo dzinobatanidza zvigunwe.
  • Muvarume, machende haadzika zvakanaka.
  • Kuchema kusina simba
  • Kuremara kwenjere kwakanyanya.

Iyo sEdwards syndrome Inogona kuonekwa nekuita amniocentesis. Vasingasviki 10% yevana vane syndrome vanozvarwa vari vapenyu. Uye kana vakadaro, 90% vanofa mugore rokutanga rehupenyu, kazhinji muvhiki yekutanga.


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  1. Inotarisira iyo data: Miguel Ángel Gatón
  2. Chinangwa cheiyo data: Kudzora SPAM, manejimendi manejimendi.
  3. Legitimation: Kubvuma kwako
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