An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report. (15th February 2017)

• Record Type: Journal Article
• Authors: Paganelli, Valeria; Giordano, Mara; Meazza, Cristina; Schena, Lucia; Bozzola, Mauro
• Is Part Of: SAGE open medical case reports. Volume 5(2017)
• Publication Date: 2017-02-15
• Subjects: 2p11.2 deletion -- short stature -- facial dysmorphisms -- speech delay; Clinical medicine -- Case studies -- Periodicals; 616.09
• DOI: 10.1177/2050313X17693967
• Languages: English
• ISSNs: 2050-313X

Abstract

Background/Objectives: Deletions on the short arm of chromosome 2 at bands p11 and p12 have been detected in association with short stature, mild mental retardation and speech delay. Results: We describe a 4 year-old boy with some facial dysmorphic traits, congenital malformations and pre- and post-natal growth failure. He also presented marked expressive language problems. The molecular karyotype revealed a 108 Kb deletion within the seventh intron of the CTNNA2 gene at 2p11.2-p12. We observed that some features (short stature, facial dysmorphisms and speech delay) were present in our patient and in patients carrying much larger overlapping deletions. Conclusions: The description of this small intragenic rearrangement might help to elucidate the role of the single genes included in the 2p11.2-p12 critical region.