Nehurombo, senge chero congenital genetic abnormality, hapana mushonga iyo inogona kudzorera yakashandurwa chromosomal nhaka.
El Patau syndrome ndiyo yechitatu yakajairika nzira yetrisomy munyika, mushure meDown syndrome (kana trisomy 21) uye Edwards syndrome (kana trisomy 18).
Chiyeuchidzo chipfupi chemajini
Sero rese remunhu ane hutano rine 23 mapeya ehomologous chromosomes: 23 ndezvaamai, ndiko kuti, nhaka kubva kuna mai, uye 23 ndezvababa, ndiko kuti, nhaka kubva kuna baba.
Chii chinonzi trisomy 13?
La trisomy 13, inozivikanwawo se Patau syndrome, is a serious congenital (kureva kuti, aripo kubva pakuzvarwa) inoonekwa nekuvapo kwemakopi matatu echromosome 13.
Chromosome 13
El chromosome 13 Iyo imhando ye autosomal chromosome uye inomiririra 3,5-4% yeDNA yakazara, iripo mumasero ese emunhu. Kunyange zvazvo vatsvakurudzi vakaidzidza kwenguva yakareba, havasati vakwanisa kusimbisa nhamba chaiyo yemajini mairi: chikamu chinosiyana pakati. 300 uye 700 genetic zvinhu.
Muvanhu vane trisomy 13, imwe chromosome 13 inogona kukwana (saka yakafanana zvachose neyakajairwa maviri) kana chidimbu (zvinoreva kuti chikamu chisipo). Kana yakwana, inodanwa zvachose trisomy 13; kana zviri zvisakarurama, tinotaura nezvazvo chikamu chetrisomy 13.
Muzhinji vatakuri vePatau syndrome, masero ese mumuviri ane makopi matatu ekromosome 13; zvisinei, hazvigone kuitika kuti trisomy inogumira kune imwe nhamba yemasero. Muchiitiko ichi chechipiri, geneticists inotaurawo nezvayo genetic mosaicism.
Patau Syndrome inoratidzika sei?
Kazhinji panguva yekubata pamuviri, zai (mukadzi) nembeu (yemurume) zvine 23 machromosomes imwe neimwe. Kubatana kwezvinhu zviviri izvi kunotungamira pakuumbwa kweiyo ovum yakasanganiswa (iyo remangwana embryo), iyo ine makromosomes makumi mana nematanhatu. Trisomy yakaita sePatau syndrome inowanzoitika nekuti kana zai kana urume hune imwe chromosome.
El zai uye remangwana embryo rinenge riine masero 47 machromosomes uye kwete 46.
Zvinhu zvine njodzi
La kukwegura yaamai inogoneka njodzi yePatau syndrome. Izvi zvinoshandawo kune mamwe maitiro akajairika etrisomy, akadai seDown syndrome uye Edwards syndrome.
Zviratidzo uye matambudziko
Iyo symptomatological mufananidzo unoenderana zvakanyanya nekuoma uye chromosomal shanduko. Kazhinji kacho mwana ane dambudziko zvakasiyana-siyana zvekunze uye zvemukati zvemuviri anomalies, zvinosanganisira:
- Musoro mudiki (microcephaly).
- Holoprosencephaly. Ndiyo iyo chaiyo pathological mamiriro umo uropi husina kukamurwa kuita maviri hemispheres, sezvaanowanzo fanira kuita. Izvi zvinokonzeresa matambudziko etsinga (mental retardation) uye kuremara kwechiso kwehukukutu hwakasiyana.
- Espina bifida yakavhurika. Ndiyo yakanyanya kuoma yepina bifida, iyo inokanganisawo musana. Muvanhu vane chirwere ichi, mameninges uye rwonzi rwomuzongoza zvinobuda (zvinozivikanwa sehernia) kubva mugomba ravo remusana, zvichiita saga rakabudikira pamwero weshure. Kunyangwe ichidzivirirwa neganda reganda, bhegi iri rinoratidzirwa kune hutsinye hwekunze uye rinogara riri panjodzi yekukomba uye, mune dzimwe nguva, kunyange hutachiona hunouraya.
- Mhino yakakura.
- Nzeve dzakaderera uye dzisina kujairika dzakaumbwa; kusanzwa uye zvirwere zvenzeve zvinogara zvichiitika.
- Kuremara kwemaziso emarudzi akasiyana-siyana. Trisomy 13 vatakuri vanowanzova nemeso madiki kwazvo (microphthalmia) uye pedyo zvikuru kune mumwe nemumwe (hypotelorism) Muzviitiko zvakanyanya, vane ziso rimwe chete (anophthalmia) uye / kana kutambura ocular coloboma. Iro ocular coloboma i malformation yeziso iyo inogona kukanganisa lens, iris, choroid, retina uye / kana eyelid. Vamwe varwere vane kushaya kwakakwana kwe retina. Zviripachena, pamberi peimwe kana akawanda emamiriro aya, kugona kwekuona kunokanganisa.
- Harelip uye / kana cleft palate. Mamiriro ekutanga anosanganisira kutsemuka kwemuromo wepamusoro, ukuwo chechipiri kutsemuka mukanwa.
- Aplasia yeganda (kana aplasia ganda) Ndiyo izwi rezvokurapa rekushaikwa kweganda mune dzimwe nzvimbo dzemusoro. Vaya vanoitakura vanowanzobatwa nezvirwere zvinogara zvichiitika uye maronda. Mukuwedzera, ganda rine basa rekudzivirira kurwisa microorganisms (mabhakitiriya, mavhairasi, nezvimwewo).
- Polydactyly (o hyperdactyly) uye camptodactyly. Izwi rekutanga rinoreva kuva nezvigunwe zvinopfuura zvishanu uye/kana zvigunwe. Izwi rechipiri rinoratidza kukanganisa kwemaoko maviri, kunoratidzwa nekusingaperi kutenderera kwe interphalangeal joints.
- Mune varume, cryptorchidism (undescended testicle) uye kukanganisa kwe scrotum uye genitalia (micropenis); muvanhukadzi, bicornuate uterus e clitoral hypertrophy.
- Matambudziko ekufema uye kuremara kwemoyo. Kuremara kwemwoyo uye kukanganisa kunosanganisira izvo zvinonzi interatrial uye interventricular defects, patent ductus arteriosus, chirwere chevalvular (zvikurukuru chinokanganisa aortic uye pulmonary valves), uye dextrocardia (mwoyo wakashandura kurudyi, pane kurudyi).
- Itsvo dzine cysts. Kuonekwa kwayo kunoyeuchidza zvikuru itsvo dzevanhu vane polycystic itsvo chirwere.
- Gastrointestinal abnormalities.
Mushure memwedzi umwe wehupenyu
Kana mwana achangoberekwa akasvika mwedzi mumwe wehupenyu, anowedzera zvirwere, kusanganisira:
- Kunetseka kudya zvakanaka.
- Kuparadza
- Gastroesophageal reflux.
- Slow kukura mwero.
- Scoliosis.
- Tsika yekushatirwa.
- Sensitivity kune chiedza chezuva (photophobia).
- Yakaderedzwa tsandanyama toni
- Hypertension.
- Sinusitis uye zvirwere zveurinary turakiti, maziso nenzeve.
Kuongorora
Vanachiremba vanogona kuongorora Patau syndrome kunyangwe mwana asati azvarwa. Ongororo dzekuzivikanwa kwechirwere mu prenatal phase ndeiyi: fetal ultrasound, amniocentesis (transabdominal kuunganidzwa kwechikamu chidiki cheamniotic fluid, chakaitwa pamasvondo gumi nematanhatu kana gumi nemasere) uye CVS (yakaitwa pamavhiki gumi kana gumi nemaviri) . Inowanzoitwa pakati pevhiki 16 ne18.
Kana nekuda kwezvikonzero zvakasiyana-siyana zvisingakwanisi kuita zvidzoreso zvataurwa pamusoro apa, kuongororwa kwetrisomy 13 kunoitika pakuzvarwa, kuburikidza nekuongororwa kwemuviri uye kuongororwa kwechromosomal yesampuli yeropa.
Kurapa
Patau syndrome ndeye chirwere chisingarapikeSezvo pasina kurapwa kunogona kudzoreredza kuumbwa kwechromosome, kwete panguva yehupenyu hwepamberi kana mushure mekuzvarwa.
Zvisinei, kana mwana akararama, kurapwa kwechiratidzo kuchaitwa. Zvakabatwa zvichagadziriswa.
Kuzivikanwa
Hupenyu hunotarisirwa hwemunhu ane Patau syndrome hushoma. Chidzidzo cheAnglo-Saxon chinoshuma kuti:
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- Muyero wepakati wekupona mazuva 2,5.
- Inenge 50% yevana vanobatwa nechirwere ichi vanorarama kwevhiki imwe chete.
- 5-10% yezvidzidzo zvine trisomy 13 zvinorarama kungopfuura gore.