Title |
Failure to thrive as presentation in a patient with 22q11.2 microdeletion
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Published in |
Italian Journal of Pediatrics, February 2016
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DOI | 10.1186/s13052-016-0224-0 |
Pubmed ID | |
Authors |
Grazia Bossi, Chiara Gertosio, Cristina Meazza, Giovanni Farello, Mauro Bozzola |
Abstract |
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. 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. Sometimes, in infants with growth failure a genetic analysis is strongly suggested, since chromosomal abnormalities may be present. |
X Demographics
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 21 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 4 | 19% |
Researcher | 4 | 19% |
Student > Postgraduate | 3 | 14% |
Student > Ph. D. Student | 2 | 10% |
Student > Master | 1 | 5% |
Other | 2 | 10% |
Unknown | 5 | 24% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 7 | 33% |
Biochemistry, Genetics and Molecular Biology | 6 | 29% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 5% |
Linguistics | 1 | 5% |
Environmental Science | 1 | 5% |
Other | 0 | 0% |
Unknown | 5 | 24% |