Memorias del Instituto de Investigaciones en Ciencias de la Salud
versão On-line ISSN 1812-9528
Inversions are one of the most common chromosomal anomalies with a frequency of 0.6% in the general population. They are produced when two ruptures occur in the same chromosome. The originated segment inverts and reinserts again on the same chromosome. Generally, an inversion does not provoke an abnormal phenotype in the carrier but it may do in his descendants being associated to mental retard, congenital malformations or reproductive failures. We present the case of a child who was born by cesarean at 38.5 weeks of gestation with a weight of 1.800 g (< P3), a height of 46 cm. (PC < 3), cephalic circunference of 32 cm (-2 DS) and an Apgar of 8/9. He was the first child born of non consaguineous mother and father of 26 and 27 years old respectively, without antecedents of exposure to teratogenic agents. Prenatal diagnosis revealed oligoamnion and intra¬uterus growth retard. Physical examination showed: low implantation ears, hypotelorism, microretrognatia, ojival palate and psychomotoricity retard. At 4 years old, lung hemosiderosis was detected. A cytogenetic study with High Resolution Banding of peripherical blood showed a pericentric inversion of the chromosome 2 of maternal origin. Karyotype: 46,XY, inv_(2)(p11;q13) mat. A younger brother, who is phenotypically normal, presented the same chromosomal reordering. This work emphasizes the importance of performing family chromosomal studies to identify carriers, offer genetic counseling and make prenatal diagnosis.
Palavras-chave : Inversion; Oligoamnion; Microrretrognatia; High resolution.