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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.

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Publisher Full Text

Authors

Razavi-Encha F
No affiliation info available
Raoul O
No affiliation info available
Lescs MC
No affiliation info available
Danan C
No affiliation info available

MeSH

Abnormalities, MultipleAneuploidyBone MarrowChromosome AberrationsChromosome BandingChromosomes, Human, 16-18Chromosomes, Human, 21-22 and YFemaleHumansInfant, NewbornIntellectual DisabilityKaryotypingLymphocytesPhenotypeSyndromeTrisomy

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_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1985&volume=21&issue=3&spage=591 DB - PRIME DP - Unbound Medicine ER -