When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication

Laura Travan; Maria Santa Rocca; Francesca Buonomo; Lisa Cleva; Vanna Pecile; Angela De Cunto

doi:10.1177/2324709615574949

When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication

Laura Travan, Maria Santa Rocca, Francesca Buonomo, Lisa Cleva, Vanna Pecile, Angela De Cunto

IRCCS pediatrico Burlo Garofolo

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	2324709615574949
Journal	Journal of Investigative Medicine High Impact Case Reports
Volume	3
Issue number	1
DOIs	https://doi.org/10.1177/2324709615574949
Publication status	Published - Oct 2 2015

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Journal Article

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10.1177/2324709615574949

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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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AU - Buonomo, Francesca

AU - Cleva, Lisa

AU - Pecile, Vanna

AU - De Cunto, Angela

PY - 2015/10/2

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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.

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DO - 10.1177/2324709615574949

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When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication

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