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

Authors :
Bonasoni, Maria Paola
Comitini, Giuseppina
Pati, Mariangela
Bizzarri, Veronica
Barbieri, Veronica
Marinelli, Maria
Caraffi, Stefano Giuseppe
Zuntini, Roberta
Pollazzon, Marzia
Palicelli, Andrea
Garavelli, Livia
Source :
Fetal & Pediatric Pathology; Dec2023, Vol. 42 Issue 6, p979-989, 11p
Publication Year :
2023

Abstract

Background: SOX2 disorders are associated with anophthalmia-esophageal-genital syndrome or microphthalmia, syndromic 3 (MCOPS3- # 206900). Case Report: We describe a third fetal case with a de novo 3q26.32q26.33 deletion extending for 4.31 Mb, detected in a 15-week fetus. After legal interruption of pregnancy, at autopsy, the fetus presented bilateral microphthalmia, right cleft lip and palate, bilateral cerebral ventriculomegaly and dilated third ventricle, microcystic left lung, and intestinal malrotation. Histologically, the left lung showed congenital pulmonary airway malformation (CPAM) type 2. Retinal dysplasia was found in both eyes. Discussion/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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
15513815
Volume :
42
Issue :
6
Database :
Complementary Index
Journal :
Fetal & Pediatric Pathology
Publication Type :
Academic Journal
Accession number :
173826614
Full Text :
https://doi.org/10.1080/15513815.2023.2261043