An infant with double trisomy (48,XXX, + 18)
- PMID: 8116670
- DOI: 10.1002/ajmg.1320490210
An infant with double trisomy (48,XXX, + 18)
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.
Comment in
-
Double trisomy (48,XXX, +18).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.
Similar articles
-
Double trisomy (48,XXX, +18).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.
-
Double trisomy 48,XXX,+ 18 in a newborn.Am J Med Genet. 1981;8(1):67-71. doi: 10.1002/ajmg.1320080109. Am J Med Genet. 1981. PMID: 7246607
-
[Trisomy 5p: a report of 2 cases].An Esp Pediatr. 1985 Mar 31;22(4):288-92. An Esp Pediatr. 1985. PMID: 4003955 Spanish.
-
A case of 48, XXX, +18 double trisomy.Acta Paediatr Jpn. 1987 Feb;29(1):178-81. doi: 10.1111/j.1442-200x.1987.tb00027.x. Acta Paediatr Jpn. 1987. PMID: 3144845 Review. No abstract available.
-
Trisomy 6q22 leads to 6qter due to maternal 6;21 translocation. Case report review of the literature.Ann Genet. 1983;26(4):243-6. Ann Genet. 1983. PMID: 6364954 Review.
Cited by
-
Double trisomy 48,XXX,+18 with multiple dysmorphic features.World J Pediatr. 2015 Feb;11(1):83-8. doi: 10.1007/s12519-015-0005-7. Epub 2015 Jan 28. World J Pediatr. 2015. PMID: 25822702
-
Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients.Chromosoma. 2022 Dec;131(4):225-237. doi: 10.1007/s00412-022-00782-3. Epub 2022 Oct 11. Chromosoma. 2022. PMID: 36219240
-
Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21.J Med Genet. 1995 Aug;32(8):650-3. doi: 10.1136/jmg.32.8.650. J Med Genet. 1995. PMID: 7473661 Free PMC article.
-
Placental Histomorphology in a Case of Double Trisomy 48,XXX,+18.Case Rep Pathol. 2018 Mar 8;2018:2839765. doi: 10.1155/2018/2839765. eCollection 2018. Case Rep Pathol. 2018. PMID: 29707399 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources