Deletion 6q syndrome

Case report of a rare finding in Amazonas, Brazil

Keywords: Karyotype, karyotype analysis, chromosome 6, congenital anomalies

Abstract

Aims: Deletion 6q syndrome is considered a rare chromosomal anomaly. Thus, our objective was to report a rare case of a boy with 6q deletion syndrome.
Case description: 4-year-old boy with delayed growth and neuropsychomotor development, weight gain difficulties and retinal abnormalities. Karyotypic analysis of the patient revealed karyotype 46, XY, del (6) (q25-qter). That is, a deletion in the long arm of one of the chromosome 6, specifically in the distal region of the long arm of the 6q25 band up to the 6qter band.
Conclusions: This report demonstrates the importance of cytogenetic analyzes for the accurate diagnosis of congenital anomalies, as they assist in referring appropriate treatments to patients and in expanding scientific knowledge related to this deletion.

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Author Biographies

Ananda Larise Colares Menezes, Universidade do Estado do Amazonas, Manaus, AM, Brasil.

Graduanda em Licenciatura em Ciências Biológicas pela Universidade do Estado do Amazonas (UEA), Manaus, AM, Brasil.

Denise Corrêa Benzaquem, Universidade do Estado do Amazonas, Manaus, AM, Brasil.

Graduada em Ciências Biológicas pelo Instituto Cultural de Ensino Superior do Amazonas (Atual Uninorte). Mestre em Biotecnologia e Recursos Naturais pela Universidade do Estado do Amazonas (UEA). Doutora em Genética, Conservação e Biologia Evolutiva pelo Instituto Nacional de Pesquisas da Amazônia, Manaus, AM, Brasil.

Natalia Dayane Moura Carvalho, Universidade do Estado do Amazonas, Manaus, AM, Brasil.

Graduada em Licenciatura em Ciências Biológicas pela Escola Superior Batista do Amazonas (ESBAM). Mestre e doutora em Genética, Conservação e Biologia Evolutiva pelo Instituto Nacional de Pesquisas da Amazônia (INPA). Pós-doutoranda pela Universidade do Estado do Amazonas, Manaus, AM, Brasil.

Vania Mesquita Gadelha Prazeres, Universidade do Estado do Amazonas, Manaus, AM, Brasil.

Graduada em Medicina pela Universidade Federal do Amazonas (UFAM). Professora de Pediatria na UFAM e preceptora sem vínculo empregatício da Universidade do Estado do Amazonas (UEA). Pesquisadora do Programa de Apoio à Fixação de doutores – FAPEAM. Médica geneticista da Secretaria do Estado do Amazonas (SUSAM). Coordenadora do Serviço de Referência me Triagem Neonatal Policlínica Codajás, Manaus, AM, Brasil.

Cleiton Fantin, Universidade do Estado do Amazonas, Manaus, AM, Brasil.

Graduado em Ciências Biológicas pela Universidade Estadual de Londrina (UEL). Mestre em Genética e Biologia Molecular pela UEL. Doutor em Biotecnologia pela Universidade Federal do Amazonas (UFAM). Professor e pesquisador da Universidade do Estado do Amazonas (UEA), Manaus, AM, Brasil.

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Published
2021-05-27
How to Cite
Menezes, A. L. C., Benzaquem, D. C., Carvalho, N. D. M., Prazeres, V. M. G., & Fantin, C. (2021). Deletion 6q syndrome: Case report of a rare finding in Amazonas, Brazil. Scientia Medica, 31(1), e37395. https://doi.org/10.15448/1980-6108.2021.1.37395