Familiar del3p syndrome: The uncertainty of the prognosis. A case report. Issue 4 (9th March 2021)

• Record Type: Journal Article
• Authors: Martins, Márcia; Arantes, Regina; Botelho, Pedro; Souto, Marta; Moutinho, Osvaldo; Pinto Leite, Rosário
• Is Part Of: Clinical case reports. Volume 9:Issue 4(2021)
• Page Start: 2365
• Page End: 2368
• Publication Date: 2021-03-09
• Subjects: 3p deletion -- array‐comparative genomic hybridization -- cytogenetic -- fluorescence in situ hybridization; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.4036
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: The 3p deletion syndrome is an unusual condition. The few cases described are mainly de novo. We described a familial case detected in a prenatal diagnosis. Three members of the family had the 3p26.3‐p26.1 deletion; however, only the son presented clinical features. Abstract : The 3p deletion syndrome is an unusual condition. The few cases described are mainly de novo. We described a familial case detected in a prenatal diagnosis. Three members of the family had the 3p26.3‐p26.1 deletion; however, only the son presented clinical features.