Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22.
Here we report a patient with partial trisomy 2p and congenital dysplasia of the semilunar valves. To our knowledge, this is the first case of 2p duplication with developmental defects of both semilunar valves and suggests that genes on this region contribute to the formation of the semilunar valves.
Kochilas
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LK
Division of Pediatric Cardiology, Department of Pediatrics, Rhode Island Hospital, 1 Hoppin Street, Providence, RI 02903, USA. lazaros_kochilas@brown.edu
Abuelo
D N
DN
Tantravahi
U
U
D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2; D005260:Female; D020440:Gene Duplication; D006345:Heart Septal Defects, Ventricular / Q000000981:diagnostic imaging / Q000235:genetics; D006349:Heart Valve Diseases / Q000235:genetics*; D006351:Heart Valves / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D014314:Trisomy / Q000235:genetics*; D014463:Ultrasonography