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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)2324709615574949
JournalJournal of Investigative Medicine High Impact Case Reports
Volume3
Issue number1
DOIs
Publication statusPublished - Oct 2 2015

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Growth
cause
Nucleotides
Polymorphism
Chromosome Aberrations
Intellectual Disability
Single Nucleotide Polymorphism
disability
Parturition
Trisomy 9q Chromosome 9
Genetics
Maternal Inheritance

Keywords

  • Journal Article

Cite this

When Feeding Difficulties Are due to Genetics : The Case of Familial Partial 9q Duplication. / Travan, Laura; Rocca, Maria Santa; Buonomo, Francesca; Cleva, Lisa; Pecile, Vanna; De Cunto, Angela.

In: Journal of Investigative Medicine High Impact Case Reports, Vol. 3, No. 1, 02.10.2015, p. 2324709615574949.

Research output: Contribution to journalArticle

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