{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T22:11:00Z","timestamp":1648591860317},"reference-count":17,"publisher":"Akademiai Kiado Zrt.","issue":"46","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,11,1]]},"abstract":"<jats:p>A szerz\u0151k az 1976 \u00e9s 2005 k\u00f6z\u00f6tti id\u0151szakban, az int\u00e9zet\u00fck genetikai tan\u00e1csad\u00e1s\u00e1n el\u0151fordul\u00f3 autoszom\u00e1lis domin\u00e1nsan \u00f6r\u00f6kl\u0151d\u0151 Holt\u2013Oram-szindr\u00f3m\u00e1s esetekr\u0151l sz\u00e1molnak be. Els\u0151 beteg\u00fck, egy Holt\u2013Oram-szindr\u00f3m\u00e1s f\u00e9rfi a betegs\u00e9g 50%-os \u00e1t\u00f6r\u00f6k\u00edt\u00e9si es\u00e9ly\u00e9t t\u00fal magasnak \u00edt\u00e9lve, lemondott a gyermeknemz\u00e9sr\u0151l. K\u00e9t, Holt\u2013Oram-szindr\u00f3m\u00e1ban szenved\u0151 n\u0151 terhess\u00e9g\u00e9ben t\u00f6rt\u00e9nt magzati ultrahangvizsg\u00e1lat \u00e9s echokardiogr\u00e1fia. Az egyik esetben kiz\u00e1rt\u00e1k a betegs\u00e9g lehet\u0151s\u00e9g\u00e9t, a m\u00e1sik esetben diagnosztiz\u00e1lt\u00e1k a magzat Holt\u2013Oram-szindr\u00f3m\u00e1j\u00e1t. Ezenk\u00edv\u00fcl k\u00e9t, genetikai szempontb\u00f3l nem terhelt n\u0151 magzat\u00e1ban ismert\u00e9k fel a Holt\u2013Oram-szindr\u00f3m\u00e1t praenatalisan a m\u00e1sodik trimeszterben. Az egyik esetben a sz\u00edv- \u00e9s v\u00e9gtagfejl\u0151d\u00e9si rendelleness\u00e9gek olyan s\u00falyosak voltak, hogy a h\u00e1zasp\u00e1r a terhess\u00e9g megszak\u00edt\u00e1s\u00e1hoz folyamodott. 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