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Meloni VA, Takeno SS, Pilla AL, et al. Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up. Mol Cytogenet. 2014;7:57doi: 10.1186/s13039-014-0057-8.
Meloni, V. A., Takeno, S. S., Pilla, A. L., de Mello, C. B., Melaragno, M. I., & Kulikowski, L. D. (2014). Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up. Molecular cytogenetics, 757. https://doi.org/10.1186/s13039-014-0057-8
Meloni, Vera Ayres, et al. "Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up." Molecular cytogenetics vol. 7 (2014): 57. doi: https://doi.org/10.1186/s13039-014-0057-8
Meloni VA, Takeno SS, Pilla AL, de Mello CB, Melaragno MI, Kulikowski LD. Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up. Mol Cytogenet. 2014 Aug 22;7:57. doi: 10.1186/s13039-014-0057-8. eCollection 2014. PMID: 25184002; PMCID: PMC4151026.
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Mol Cytogenet. 2014 Aug 22;7:57. doi: 10.1186/s13039-014-0057-8. eCollection 2014.

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

Molecular cytogenetics

Vera Ayres Meloni, Sylvia Satomi Takeno, Ana Luiza Pilla, Claudia Berlim de Mello, Maria Isabel Melaragno, Leslie Domenici Kulikowski

Affiliations

  1. Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
  2. Children's Interdisciplinary Neuropsychological Center, AFIP, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
  3. Department of Pathology, Cytogenomics Lab, LIM 03, Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155, 2° andar, bloco 12, sala 7, São Paulo, SP, Brazil ; Human Reproduction and Genetics Center, Department of Collective Health, Faculdade de Medicina do ABC, Santo André, SP, Brazil.

PMID: 25184002 PMCID: PMC4151026 DOI: 10.1186/s13039-014-0057-8

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, 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.

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.

Keywords: Array; Clinical follow-up; Congenital heart defects; FISH; Intellectual disability; Partial deletion 11q; Partial duplication 1q

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