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

Author:

Bonasoni Maria Paola1,Comitini Giuseppina2,Pati Mariangela2,Bizzarri Veronica3,Barbieri Veronica3,Marinelli Maria3,Caraffi Stefano Giuseppe3,Zuntini Roberta3,Pollazzon Marzia3,Palicelli Andrea1,Garavelli Livia3

Affiliation:

1. Pathology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy

2. Department of Obstetrics & Gynaecology, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy

3. Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy

Publisher

Informa UK Limited

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

Reference36 articles.

1. The cDNA sequence and chromosomal location of the human SOX2 gene

2. SOX2 in development and cancer biology

3. Williamson KA, Yates TM, FitzPatrick DR. SOX2 Disorder. 2006 Feb 23 [updated 2020 Jul 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. p. 1993–2021.

4. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

5. Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

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