üleliigsest kromosoom 21‑st (kahe asemel kolm) põhjustatud arenguhäire, millele on iseloomulikud tüüpilised näojooned, lühikesed sõrmed, liigeste lõtvus ja vaimne alaareng
a congenital condition characterized especially by developmental delays, usually mild to moderate impairment in cognitive functioning, short stature, upward slanting eyes, a flattened nasal bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21
genetic disorder, caused by the presence of an extra copy of chromosome 21 in a baby's cells, that affects a baby's normal physical development when it is still in the womb and causes mild to moderate learning difficulties
Hea teada
Haiguse esinemissagedus on üks juhtum 700 sünni kohta.
Haigekassa ei võta koodiga 66636 tähistatud tervishoiuteenuse eest tasu maksmise kohustust üle järgmiste kliiniliselt äratuntavate kromosoomi anomaaliate korral: Downi (21 trisoomia), Edwardsi (18 trisoomia) või Patau (13 trisoomia), Turneri või Klinefelteri sündroom.
Iseloomuliku välimuse tõttu võib Downi sündroomi kahtlustada juba vastsündinutel. Downi sündroomil puudub spetsiifiline ravi.
Kõige sagedamini diagnoositavad kromosoomhaigused on Downi sündroom (21. kromosoomi trisoomia), Edwardsi sündroom (18. kromosoomi trisoomia), Patau sündroom (13. kromosoomi trisoomia) ja sugukromosoomide (X,Y) arvu muutused.
British physician John Langdon Down first described the physical features of Down syndrome in 1866, and thus the disorder was later named for him.
... A. whereas it is estimated that the chances of a child being born with Down syndrome are between 600 and 1 000 to 1; B. whereas Down syndrome is one of the commonest genetic causes of learning disabilities; C. whereas congenital anomalies are one of the main causes of infant mortality and long-term disability, and children with Down syndrome can suffer from numerous congenital disturbances, the most frequent being heart disease; ...
Although "Down's Syndrome" is still commonly used in the UK, "Down syndrome" is becoming prevalent internationally and is also found in the UK. [10.10.2018]
... reagents and reagent products, including related calibrators, control materials and software, designed specifically for evaluating the risk of trisomy 21, ...
