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Updated: Mar 26, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Failure to thrive as presentation in a patient with 22q11.2 microdeletion
Grazia Bossi1, Chiara Gertosio2, Cristina Meazza3
1Paediatrics Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. g.bossi@smatteo.pv.it.
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.
Case Presentation:
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.
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