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When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication
Laura Travan1, Maria Santa Rocca1, Francesca Buonomo1
1Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Abstract:
Chromosomal abnormalities may cause growth failure before or since birth. 9q duplication is reported as a cause of intrauterine growth restriction, mild dysmporphism, and intellectual disabilities. We report a case of a maternally inherited 9q21.31q21.33 duplication causing prenatal and postnatal growth restriction with feeding refusal and mild facial dysmorphisms, prenatally diagnosed by single-nucleotide polymorphism array analysis. Hypothesis of the possible pathogenic mechanisms are discussed.
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