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An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report.

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.

SUBMITTER: Paganelli V

PROVIDER: S-EPMC5317034 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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An intragenic deletion within <i>CTNNA2</i> intron 7 in a boy with short stature and speech delay: A case report.

Paganelli Valeria V Giordano Mara M Meazza Cristina C Schena Lucia L Bozzola Mauro M

SAGE open medical case reports 20170215

<h4>Background/objectives</h4>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.<h4>Results</h4>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. ...[more]

PMID: 28250917

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