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




Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Molecular Cytogenetics

, 7:57

First Online: 22 August 2014Received: 11 June 2014Accepted: 04 August 2014

Abstract

BackgroundPartial 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.

Case presentationWe report a clinical and cytogenomic study of a patient with multiple congenital anomalies, heart defect, neuromotordevelopment delay, intellectual disability, who presents partial trisomy 1q32 and partial monosomy 11q25 inherited from a paternal balanced translocation identified by chromosome microarray and fluorescence in situ hybridization.

ConclusionCompared to patients from the literature, the patient’s phenotype is more compatible to the 1q32 duplication’s clinical phenotype, although some clinical features may also be associated to the deleted segment on chromosome 11. This is the smallest 11q terminal deletion ever reported and the first association between 1q32.3 duplication and 11q25 deletion in the literature.

KeywordsPartial duplication 1q Partial deletion 11q Congenital heart defects Array FISH Intellectual disability Clinical follow-up AbbreviationsCHDCongenital heart defects

JAM3Junctional adhesion molecule 3 gene

OFCOccipital frontal circumference

RYR2Ryanodine receptor 2 gene

TBCEHomo sapiens tubulin folding cofactor E

TGFB2Tubulin folding cofactor E gene

VTSIPVentricular tachycardia, stress-induced polymorphic gene

Electronic supplementary materialThe online version of this article doi:10.1186-s13039-014-0057-8 contains supplementary material, which is available to authorized users.

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Autor: Vera Ayres Meloni - Sylvia Satomi Takeno - Ana Luiza Pilla - Claudia Berlim de Mello - Maria Isabel Melaragno - Leslie 

Fuente: https://link.springer.com/







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