Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up

Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments to the clinical phenotype. We report a clinical and cytogenomic study of a patient with...

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Bibliographic Details
Published in:	Molecular cytogenetics Vol. 7; no. 1; p. 57
Main Authors:	Meloni, Vera Ayres, Takeno, Sylvia Satomi, Pilla, Ana Luiza, de Mello, Claudia Berlim, Melaragno, Maria Isabel, Kulikowski, Leslie Domenici
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 22-08-2014 BioMed Central
Subjects:	Care and treatment Case Report Congenital heart disease Diagnosis Genetic aspects Genetic disorders Medical research Medicine, Experimental Risk factors Array Intellectual disability FISH Partial deletion 11q Congenital heart defects Clinical follow-up Partial duplication 1q
Online Access:	Get full text
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