title: An intragenic deletion withinCTNNA2intron 7 in a boy with short stature and speech delay: A case report.
abstract: OBJECTIVE
  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.
authors.affiliation: University of Pavia-Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Paganelli
authors.affiliation: Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
authors.forename: Mara
authors.initials: M
authors.lastname: Giordano
authors.affiliation: Internal Medicine and Therapeutics Department, Paediatric and Adolescent Unit, University of Pavia-Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Meazza
authors.affiliation: University of Pavia-Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Schena
authors.affiliation: Internal Medicine and Therapeutics Department, Paediatric and Adolescent Unit, University of Pavia-Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Mauro
authors.initials: M
authors.lastname: Bozzola
keywords: 2p11.2 deletion; facial dysmorphisms; short stature; speech delay