Duplication of chromosome 1q — Prenatal diagnosis, ultrasound manifestations, and perinatal prognosis

Introduction: Mosaicism due to duplication of chromosome 1q is recognized as a cytogenetic anomaly, characterized by low frequency and few cases reported in the literature. Clinical findings: In this case, we present a primigravida patient at 24 weeks of pregnancy, with a fetus displaying abnormal ultrasound findings. These include ventriculomegaly, micrognathia, hypotelorism, and associated diaphragmatic hernia. Primary diagnoses: Amniocentesis was performed, and karyotype analysis revealed a prenatal diagnosis of mos 46,XY,dup(1)(q23q44)[19]/46,XY[41] mosaicism. Subsequently, the patient experienced preterm delivery with early perinatal demise. Therapeutic interventions and outcomes: Due to the lack of evidence regarding fetal therapy and the prenatal diagnosis of this condition, postnatal assessment was awaited for appropriate therapeutic management. Subsequently, the patient had preterm delivery with early perinatal death. Conclusion: Heterogeneity of findings is observed to depend on the size and location of the chromosomal alteration, and factors such as the concurrent development of diaphragmatic hernia are associated with a poorer prognosis and higher rates of mortality due to the degree of pulmonary hypoplasia.