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

Autor(es)

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]}

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: MOLECULAR CYTOGENETICS; v. 7, AUG 22 2014.
• Citações Web of Science: 0

Resumo

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)

• Processo FAPESP: 10/05123-5 - Avaliação de desequilíbrios genômicos em translocações e rearranjos cromossômicos complexos aparentemente equilibrados
• Beneficiário: Mariana Moysés Oliveira
• Modalidade de apoio: Bolsas no Brasil - Iniciação Científica
• Processo FAPESP: 09/53105-9 - Aplicação da citogenética molecular no diagnóstico de pacientes com anomalias congênitas para a redução da mortalidade infantil
• Beneficiário: Leslie Domenici Kulikowski
• Modalidade de apoio: Auxílio à Pesquisa - Pesquisa em Políticas Públicas para o SUS