[Fetal atrioventricular septal defect associated with Patau and Edwards syndromes, as well as trisomy 22].
The atrioventricular septal defect is usually associated with trisomy 21 and it may be observed in the heterotaxia syndromes. Atrioventricular septal defect may be associated with 8p deletion. There are reported cases of familial atrioventricular septal defect. Atrioventicular septal defect is rarely associated with other chromosomal abnormalities. We are reporting three unusual cases of atrioventricular septal defect that were associated with trisomy 13, 18 and 22. This association may be due to effect of genetic loci on the 13, 18 and 22 chromosome which could play the role in the development and fusion of endocardial cushion and atrioventricular septal defect.
Cesko
I
I
I. Szülészeti és Np6yógyászati Klinika, Semmelweis Orvostudományi Egyetem, Budapest.
Hajdú
J
J
Marton
T
T
Tóth-Pál
E
E
Papp
C
C
Papp
Z
Z
D000328:Adult; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*; D016216:Ultrasonography, Prenatal
Magzati atrioventricularis septumdefektus társulása Patau- és Edwards-szindrómával, valamint 22-es trisomiával.