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Review
. 1994 Jan 15;49(2):207-10.
doi: 10.1002/ajmg.1320490210.

An infant with double trisomy (48,XXX, + 18)

S Jaruratanasirikul  1 , U Jinorose
Affiliations
Review

An infant with double trisomy (48,XXX, + 18)

S Jaruratanasirikul et al. Am J Med Genet. .

Abstract

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.

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Comment in

  • Double trisomy (48,XXX, +18).
    Tsukahara M, Fukuda M, Furukawa S, Kondoh O. Tsukahara M, et al. Am J Med Genet. 1994 Aug 15;52(2):244. doi: 10.1002/ajmg.1320520227. Am J Med Genet. 1994. PMID: 7802021 No abstract available.

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