Deletion 6q syndrome
Case report of a rare finding in Amazonas, Brazil
DOI:
https://doi.org/10.15448/1980-6108.2021.1.37395Keywords:
Karyotype, karyotype analysis, chromosome 6, congenital anomaliesAbstract
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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References
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