Trisomy 18 associated with ectopia cordis and occipital meningocele.
A premature infant presented with ectopia cordis, occipital meningocele, and manifestations of trisomy 18; cytogenetic analysis confirmed a 47,XX,+18 chromosome constitution. While most cases of ectopia cordis appear as isolated, sporadic defects, careful evaluation is warranted to detect evidence of an associated chromosome abnormality.
Bick
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D
Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284.
Markowitz
R I
RI
Horwich
A
A
D000015:Abnormalities, Multiple / Q000235:genetics; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008588:Meningocele / Q000235:genetics*; D014314:Trisomy