title: Failure to thrive as presentation in a patient with 22q11.2 microdeletion.
abstract: BACKGROUND
  Abnormalities of chromosome 22q11, including deletions and translocations, have been described in association with different birth defects and malformations occurring in many combinations and degrees of severity.
  
  
  METHODS
  We describe the case of an 8 month-old infant with no dysmorphic signs who showed progressive postnatal growth failure and no chronic systemic diseases. We found a 22q11.2 microdeletion, inherited from the mother, suggesting the diagnosis of DiGeorge syndrome. The patient had an isolated growth hormone (GH) deficiency and a significant increase in linear growth during the first and the second year of GH therapy, and a recovery of weight was shown.
  
  
  CONCLUSIONS
  Sometimes, in infants with growth failure a genetic analysis is strongly suggested, since chromosomal abnormalities may be present.
authors: Paediatrics Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. g.bossi@smatteo.pv.it.
authors: Grazia
authors: G
authors: Bossi
authors: Paediatrics Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. chiaragerto@live.it.
authors: Chiara
authors: C
authors: Gertosio
authors: Internal Medicine and Therapeutics Department, Paediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo Piazzale C. Golgi 2, 27100, Pavia, Italy. c.meazza@smatteo.pv.it.
authors: Cristina
authors: C
authors: Meazza
authors: Pediatric Unit, Department of Life Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy. faregiova@hotmail.com.
authors: Giovanni
authors: G
authors: Farello
authors: Internal Medicine and Therapeutics Department, Paediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo Piazzale C. Golgi 2, 27100, Pavia, Italy. mauro.bozzola@unipv.it.
authors: Mauro
authors: M
authors: Bozzola
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005183:Failure to Thrive / Q000235:genetics* / Q000628:therapy*; D005260:Female; D006801:Humans; D007223:Infant