Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the < em > SOX2 < /em > Gene: Ultrasound, Pathological, and Cytogenetic Findings

Conclusion: The human SOX2 gene (OMIM #184429) is located on chromosome 3 at position q26.3-27 and encodes a transcription factor involved in the development of the central and peripheral nervous systems, retina, and lung. In our case, the combination of cerebral, retinal, and pulmonary anomalies, not previously described, are consistent with SOX2 haploinsufficiency due to chromosomal deletion.PMID:37747279 | DOI:10.1080/15513815.2023.2261043

Source: Fetal and Pediatric Pathology - September 25, 2023 Category: Pathology Authors: Maria Paola Bonasoni Giuseppina Comitini Mariangela Pati Veronica Bizzarri Veronica Barbieri Maria Marinelli Stefano Giuseppe Caraffi Roberta Zuntini Marzia Pollazzon Andrea Palicelli Livia Garavelli Source Type: research