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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
Meloni, Vera Ayres [1] ; Takeno, Sylvia Satomi [1] ; Pilla, Ana Luiza [1] ; de Mello, Claudia Berlim [2] ; Melaragno, Maria Isabel [1] ; Kulikowski, Leslie Domenici [3, 4]
Total Authors: 6
Affiliation:
[1] Univ Sao Paulo, Dept Morphol & Genet, Sao Paulo - Brazil
[2] Univ Fed Sao Paulo, Childrens Interdisciplinary Neuropsychol Ctr, AFIP, Sao Paulo - Brazil
[3] Univ Sao Paulo, Dept Pathol, Cytogen Lab, Sao Paulo - Brazil
[4] Fac Med ABC, Human Reprod & Genet Ctr, Dept Collect Hlth, Santo Andre, SP - Brazil
Total Affiliations: 4
Document type: Journal article
Source: MOLECULAR CYTOGENETICS; v. 7, AUG 22 2014.
Web of Science Citations: 0
Abstract

Background: 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. Case presentation: We report a clinical and cytogenomic study of a patient with multiple congenital anomalies, heart defect, neuromotor development 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. Conclusion: Compared 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. (AU)

FAPESP's process: 10/05123-5 - Genomic imbalance evaluation in apparently balanced translocations and complex chromosome rearrangements
Grantee:Mariana Moysés Oliveira
Support Opportunities: Scholarships in Brazil - Scientific Initiation
FAPESP's process: 09/53105-9 - Application of molecular cytogenetic in the diagnosis of patients with congenital anomalies for the reduction of infant mortality
Grantee:Leslie Domenici Kulikowski
Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)