Abstract

TORRES, Carolina et al. Prenatal diagnosis of pericentric de novo inversion in the fifth chromosome in a patient with term birth without posterior complications. Nova [online]. 2018, vol.16, n.30, pp.75-80. ISSN 1794-2470.

Advances in cytogenetic techniques have made it possible to, more accurately, detect both structural and number chromosomal alterations. Genetic amniocentesis is an invasive test that is performed between week 16 and 20 of gestation that allows us to detect chromosomal alterations. We present a case of a patient who underwent amniocentesis by advanced maternal age (39 years) at 18 weeks of gestation, showing a pericentric inversion of chromosome 5 in the karyotype and proceeded to perform karyotypes of the parents, both normal. According to this result, the patient was screened for fetal malformations and genetic counseling. Newborn evaluation and 4-year follow-up to assess phenotype and neurological development. As discussed, chromosome 5 codes for many genes and is responsible for many pathologies that this patient did not present.

Keywords : chromosome 5; inversion pericentric; anomalies; karyotype; genes; Amniocentesis.

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