STRUCTURAL CHROMOSOMAL VARIATIONS: LITERATURE REVIEW FROM A CLINICAL CASE

• DOI: 10.22533/at.ed.1592782208125

• Palavras-chave: Genome Structural Variation; DNA Copy Number Variation; Chromosomal Aberrations; Human Genome.

• Keywords: Genome Structural Variation; DNA Copy Number Variation; Chromosomal Aberrations; Human Genome.

• Abstract:

  Structural Chromosomal Variations affect chromosomes and have the potential to cause phenotypic changes and lead to the manifestation of diseases by different mechanisms. Data found in the literature were correlated with the clinical case of a female newborn who expressed ocular and nipple hypertelorism, bilateral cleft lip, microtia, auditory canal atresia and deletions in chromosome 7 in regions q32q36 on the karyotype exam. Deletions are the main cause of genetic diseases and explain the physical alterations found while de novo mutations, as seen in this case, are more frequently associated with pathologies and are capable of affecting child development. The suspicion of a genetic cause made it possible to identify the chromosomal deletion, genetic counseling and planning a future pregnancy. Despite constant advances in the genetic area, further studies are needed.