Phenotype-karyotype correlations in dup(18q): report of a case and review.Am J Med Genet. 1985 Jul; 21(3):591-5.AJ
Abstract
We report on a case of dup(18q) due to de novo translocation 46,XX,-21,t(18;21)(18qter----cen----21qter). The patient had many characteristic signs of full trisomy 18 except for internal organ malformations and early death. We review the phenotype-karyotype correlations between full trisomy 18 and dup(18q) and discuss the possibility of the existence of "critical zone(s)" at the proximal or/and distal region of 18q responsible for most signs of trisomy 18, such as congenital heart defect and early death.
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
4025391
Citation
Razavi-Encha, F, et al. "Phenotype-karyotype Correlations in Dup(18q): Report of a Case and Review." American Journal of Medical Genetics, vol. 21, no. 3, 1985, pp. 591-5.
Razavi-Encha F, Raoul O, Lescs MC, et al. Phenotype-karyotype correlations in dup(18q): report of a case and review. Am J Med Genet. 1985;21(3):591-5.
Razavi-Encha, F., Raoul, O., Lescs, M. C., & Danan, C. (1985). Phenotype-karyotype correlations in dup(18q): report of a case and review. American Journal of Medical Genetics, 21(3), 591-5.
Razavi-Encha F, et al. Phenotype-karyotype Correlations in Dup(18q): Report of a Case and Review. Am J Med Genet. 1985;21(3):591-5. PubMed PMID: 4025391.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Phenotype-karyotype correlations in dup(18q): report of a case and review.
AU - Razavi-Encha,F,
AU - Raoul,O,
AU - Lescs,M C,
AU - Danan,C,
PY - 1985/7/1/pubmed
PY - 1985/7/1/medline
PY - 1985/7/1/entrez
SP - 591
EP - 5
JF - American journal of medical genetics
JO - Am J Med Genet
VL - 21
IS - 3
N2 - We report on a case of dup(18q) due to de novo translocation 46,XX,-21,t(18;21)(18qter----cen----21qter). The patient had many characteristic signs of full trisomy 18 except for internal organ malformations and early death. We review the phenotype-karyotype correlations between full trisomy 18 and dup(18q) and discuss the possibility of the existence of "critical zone(s)" at the proximal or/and distal region of 18q responsible for most signs of trisomy 18, such as congenital heart defect and early death.
SN - 0148-7299
UR - https://www.unboundmedicine.com/medline/citation/4025391/Phenotype_karyotype_correlations_in_dup_18q_:_report_of_a_case_and_review_
DB - PRIME
DP - Unbound Medicine
ER -