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Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH).
Li, S; Tuck-Muller, C M; Martínez, J E; Rowley, E R; Chen, H; Wertelecki, W.
Affiliation
  • Li S; Department of Medical Genetics, University of South Alabama, Mobile 36688-0002, USA. sli@usamail.usouthal.edu
Am J Med Genet ; 80(5): 487-90, 1998 Dec 28.
Article in En | MEDLINE | ID: mdl-9880213
ABSTRACT
We present a patient with developmental delay, minor anomalies, and duplication 18p confirmed by fluorescence in situ hybridization with whole chromosome 18 painting probe (Oncor p5218). Our observation confirms the findings of other investigators that duplication 18p is not associated with major malformations.
Subject(s)
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Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 18 / Gene Duplication Type of study: Diagnostic_studies Limits: Female / Humans / Pregnancy Language: En Journal: Am J Med Genet Year: 1998 Document type: Article Affiliation country: United States Publication country: EEUU / ESTADOS UNIDOS / ESTADOS UNIDOS DA AMERICA / EUA / UNITED STATES / UNITED STATES OF AMERICA / US / USA
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Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 18 / Gene Duplication Type of study: Diagnostic_studies Limits: Female / Humans / Pregnancy Language: En Journal: Am J Med Genet Year: 1998 Document type: Article Affiliation country: United States Publication country: EEUU / ESTADOS UNIDOS / ESTADOS UNIDOS DA AMERICA / EUA / UNITED STATES / UNITED STATES OF AMERICA / US / USA