Partial trisomy 20q in a newborn with dextrocardia.
A female newborn is reported with dextrocardia and a partial trisomy 20q, derived from a t(2;20) paternal translocation. The most discriminating findings of the condition include brachycephaly, bulging forehead, deep set eyes, short nose, large ears, dimpled chin, short neck and a heart defect. Previously reported patients with this rare chromosomal anomaly are reviewed.
Addor
M C
MC
Division of Medical Genetics, CHUV, Lausanne, Switzerland. Marie-Claude.Addor@chuv.hospvd
Castagne
C
C
Micheli
J L
JL
Schorderet
D F
DF
D002890:Chromosomes, Human, Pair 20; D003914:Dextrocardia / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D014314:Trisomy