Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature.
A newborn female with partial trisomy for the distal part of the long arm of the chromosome 14 (14q24 --> qter) resulting from a paternal balanced translocation (3;14) is described. We compare her phenotype with eight other individuals with trisomy 14q24 --> qter.
Perrin
Yannick
Y
Department of Medical Genetics, CHUV, Lausanne, Switzerland.
Addor
Marie-Claude
MC
Sekarski
Nicole
N
Gaide
Anne-Claude
AC
Schorderet
Daniel F
DF
D001011:Aorta / Q000002:abnormalities*; D002883:Chromosomes, Human, Pair 14; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008168:Lung / Q000002:abnormalities*; D013577:Syndrome; D014314:Trisomy