An infant with double trisomy (48,XXX, + 18)
We report on an infant with double trisomy 48,XXX, + 18. She presented with manifestations of trisomy 18: prominent occiput, microphthalmia, small mouth, micrognathia, malformed ears, congenital heart defect, overlapping fingers, talipes equinovarus, and rockerbottom feet. An extra palmar crease was present only on the right hand. This patient was alive at 12 months. The clinical manifestations are compared with those of 10 previously reported cases.
Jaruratanasirikul
S
S
Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Thailand.
Jinorose
U
U
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics / Q000473:pathology*; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D012729:Sex Chromosome Aberrations / Q000235:genetics / Q000473:pathology; D014314:Trisomy / Q000473:pathology*; D014960:X Chromosome