Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report

Francesco Libotte,* Katia Margiotti,* Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino Human Genetics Lab, Altamedica Main Centre, Rome, 00198, Italy*These authors contributed equally to this workCorrespondence: Katia Margiotti, Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, Rome, 00198, Italy, Tel +39 06 8505805, Fax +39 068505815, Email [email protected]: 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by a highly variable phenotype, including mild to moderate intellectual disability, distinctive facial dysmorphisms, and congenital anomalies such as ocular defects, cardiac malformations, and limb abnormalities. The deletion size in 8q21.11 microdeletion syndrome ranges from 0.12 to 13.15 Mb, with a critical small region of overlap (SRO) of 539.77 Kb. The ZFHX4 gene in this region is implicated in neurodevelopmental disorders and ocular anomalies. Other genes, including PEX2 and PMP2, contribute to the complex clinical presentation by affecting metabolic and immune functions. Here, we present a prenatal diagnosis of 8q21.11 microdeletion syndrome in a fetus with increased nuchal translucency detected via ultrasound. This case underscores the importance of high-resolution genomic testing and genetic counseling in the management of 8q21.11 microdeletion syndrome, providing valuable insights into prenatal assessment of this rare condition.Keywords: 8q21.11 microdeletion syndrome, prenatal diagnosis, nuchal translucency, ZFHX4