P775: Abnormal cortical development in a 22w5d fetus with mosaic Rubenstein-Taybi syndrome

Genetics in Medicine Open 2026 Open access

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Authors: Desiree D’Souza, Dorothy Bulas, Kate Cilli, Kushal J. Kapse, Jason Schroeder, Kelsey Christoffel, Jamie Fraser
DOI: 10.1016/j.gimo.2026.104267
Cited by: 0

Abstract

Based on the CNS findings in this fetus, the patient was counseled to expect poor neurological outcomes and complex medical needs, including epilepsy, neurodevelopmental and motor impairments, and intellectual disability. Chromosomal microarray and exome sequencing (ES), were recommended to identify a unifying diagnosis, clarify the fetal prognosis, and provide recurrence risk for future pregnancies.

Fields of Study & Subjects

Fetal and Pediatric Neurological Disorders Genomic variations and chromosomal abnormalities Congenital limb and hand anomalies

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104267–104267
Publication date
1 January 2026
Language
EN