Patau syndrome

Patau syndrome libhekwa njengoba izifo ezibangwa chromosome setha zokugula ambalwa. Ngenxa yalesi sifo libhekene trisomy okuthiwa - khona i extra-chromosome nantathu.

Chromosomal ubunjalo isifo sayo saqale zikhonjwe 1960 nguDkt Klaus Patau, ngemva okwathiwa okuthiwa. Lesi sifo has elinye igama - "Trisomy 13". Ukuvama salo omunye icala ngalinye 5 - 7000 izinsana. Lesi sifo UNOMDLAVUZA alinganayo imvamisa e zabo bobubili ubulili.

Ukuthuthukiswa lesi sifo ngenxa nondisjunction wama-chromosomes ngesikhathi meiosis (inqubo cell division, obhekene ukwehla kwenani indodakazi amaseli-chromosomes). Ngenxa yalokho ukwephulwa kwale nqubo endaweni chromosomal livela nantathu chromosome eyengeziwe, okuyinto imbangela ecashile izinguquko sokugembula neziyaluyalu umbungu.

Kuze kube manje, imfundiso yokuziphendukela chromosomal ufuzo akusho uqinisekise ukuthi lesi sifo angadluliselwa ezizukulwaneni ngezizukulwane. Kukholakala ukuthi ukuhlukumeza inqubo division wama-chromosomes futhi nondisjunction zabo - umcimbi okungahleliwe ukuthi kwenzekeni phakathi nokuhlanganiswa isethi kwezakhi isidoda neqanda lapho nje ebamba isisu.

Kwaphawulwa ukuthi ingozi umbungu yalesi sifo ikhula kakhulu nge okwandisa omama ubudala. Ngaphezu kwalokho, kukhona ucwaningo imiphumela ukufakazela ukuthi kungenzeka lesi anomaly chromosomal ngaphansi isenzo yokukhishwa kwemisebe.

Izifo eziningi chromosomal okubangelwa zezinombolo chromosomal kwezinso kukhona ngokwanele ukubonakaliswa ethile yomtholampilo. Lokhu kwenza kube nokwenzeka ukuxilonga izifo ngisho ngaphandle nophenyo eyengeziwe - ngokubukeka ngayo lapho usana. Patau syndrome, ibhekisela ngokuqondile nalesi sifo, futhi lubonakala ngokuqina kombungu esizalweni amaningi.

A umntwana osanda kuzalwa ne Patau syndrome, ngilugcinile kwasekuzalweni ezilandelayo: kwezinso craniofacial - microcephaly, ayisesemikhulu emifantwini palpebral, amehlo amancane naphakathi, opacities corneal, beveled ebunzini ongaphakeme, ekhaleni lushone, emfantwini lip nolwanga, kanye polydactyl anomalies ayeke ukuthuthukiswa .

Cishe njalo in izinsana nge Patau syndrome kutholwa kombungu emathunjini kohlelo sezinzwa, izinso, inhliziyo, umthondo. izingane athintekayo uhlushwa ubuthulu, retardation engqondo, convulsive syndrome, hypotonia kwemisipha.

Ngesisekelo ukubonakaliswa emitholampilo agcwele Patau syndrome, uphethwe kwangaphambilini senziwa zibukeke, ngokushesha emva kokuzalwa. Kuvele ukuskena ultrasound ivumela nangama ukukhubazeka yangaphakathi, kanye nokuhlaziywa chromosome quantification kuqinisekisa khona chromosomal kwezinso.

Ngokuvamile abanezingane okwatholakala Patau syndrome ufe kungakapheli izinyanga zokuqala zokuphila ngenxa kokuba zabo kombungu olunzima kunalo lonke ake cishe zonke izitho zangaphakathi. Ezimbalwa zazo elisekhona zihlanganisa unyaka wokuqala. Nokho, ezinye iziguli baphile iminyaka eminingi, empeleni, ngokunakekela ezifanele nokuziphatha ezanele ukuphila ukwelashwa kweminyaka lezi zingane luyanda 5 - 10 iminyaka. Noma kunjalo, zonke avame ukuba uhlushwa retardation engqondo elijulile - idiocy.

Njengoba for ukunakekelwa kwezokwelashwa, ngokuvamile iqondiswe kuphela nokuqedwa izinkinga bokuphila. Ingabe ngokuvamile eyenziwa ukulungiswa kuhlinzwa izinguquko sokugembula kwezitho zangaphakathi ukuze silondoloze ukuphila eziyisisekelo imisebenzi, kanye lip plastic nolwanga. Ngo lonke kuboniswe luyingxenye ukuphathwa lingaze, zokuvimbela izifo kanye imikhuhlane, ukunakekelwa ecophelelayo.