TY - JOUR T1 - When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication. JF - J Investig Med High Impact Case Rep Y1 - 2015 A1 - Travan, Laura A1 - Rocca, Maria Santa A1 - Buonomo, Francesca A1 - Cleva, Lisa A1 - Pecile, Vanna A1 - De Cunto, Angela AB -

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.

VL - 3 IS - 1 U1 - http://www.ncbi.nlm.nih.gov/pubmed/26425634?dopt=Abstract ER -