A5011086607- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Genomics and Rare Diseases
University of Iowa Health Care
2024
University of Iowa Hospitals and Clinics
2021-2023
Abstract Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed define phenotypic spectrum. It also highlights importance chromosome analysis identify structural abnormalities that result in aneuploidy.
Abstract Introduction/Objective Structurally complex karyotypes are rarely identified in the postnatal constitutional setting. Abnormalities involving multiple chromosomes likely to have a deleterious effect or be incompatible with life. Herein, we describe case of structurally karyotype newborn male. Methods/Case Report A male presented at birth microcephaly, severe ventriculomegaly, cerebellar hypoplasia and absent cavum septum pellucidum. Seizures, optic nerve dysplasia, feeding...