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

Li, S; Tuck-Muller, C M; Martínez, J E; Rowley, E R; Chen, H; Wertelecki, W.

Afiliación

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 en En | MEDLINE | ID: mdl-9880213

ABSTRACT

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.

Asunto(s)

Cromosomas Humanos Par 18/genética; Duplicación de Gen; Femenino; Trastornos del Espectro Alcohólico Fetal/genética; Humanos; Hibridación Fluorescente in Situ; Embarazo; Diagnóstico Prenatal; Trisomía

Buscar en Google

Imprimir

XML

PubMed Links

Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 18 / Duplicación de Gen Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Am J Med Genet Año: 1998 Tipo del documento: Article País de afiliación: Estados Unidos

Buscar en Google

Imprimir

XML

PubMed Links