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Prenatal Diagnosis of a Fetus with Partial Duplication and Deletion of Chromosome 18 Due to Maternal Pericentric Inversion 18 by Manuel Alejandro Vásquez Salguero; Wilmar Saldarriaga Gil is a Medicine article available to read on EtoBox.

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The phenotype of structural chromosome 18 mutations is highly heterogenous, clinical manifestations may range from mild to severe, they have been widely studied in the literature, however, there are few cases where two or more mutations are present in the same individual, reports where these alterations are caused by a maternal pericentric inversion and diagnosed prenatally are even rarer. Affected individuals are generally characterized by low birth weight, intellectual disability, heart defects, musculoskeletal abnormalities, craniofacial anomalies, among others. We describe the case of a masculine fetus from a non-consanguineous marriage obtained at week 29 of gestation. 27-year-old mother, G2C1, she started antenatal care at week 11 of pregnancy at the Hospital Universitario del Valle, in Cali, Colombia. Ultrasound at the 11th week of gestation showed a 3.9 mm nuchal translucency (>95p), subsequently at week 18th a new ultrasound found a 6mm nuchal translucency (>95p); suspecting a chromosomal aberration an amniocentesis was carried out at week 18th, a 756-band resolution karyotype reported: chromosome 18 partial trisomy (from 18p.11.2 to the centromere and from 18q11.22 to 18q

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Author

Manuel Alejandro Vásquez Salguero; Wilmar Saldarriaga Gil

Publisher

University Library System, University of Pittsburgh

Published

2023

Language

EN

Field

Medicine (Health Sciences)