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

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 gr...

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Autores principales: Travan, Laura, Rocca, Maria Santa, Buonomo, Francesca, Cleva, Lisa, Pecile, Vanna, De Cunto, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4586914/
https://www.ncbi.nlm.nih.gov/pubmed/26425634
http://dx.doi.org/10.1177/2324709615574949
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author Travan, Laura
Rocca, Maria Santa
Buonomo, Francesca
Cleva, Lisa
Pecile, Vanna
De Cunto, Angela
author_facet Travan, Laura
Rocca, Maria Santa
Buonomo, Francesca
Cleva, Lisa
Pecile, Vanna
De Cunto, Angela
author_sort Travan, Laura
collection PubMed
description 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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spelling pubmed-45869142015-09-30 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 J Investig Med High Impact Case Rep Article 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. SAGE Publications 2015-02-18 /pmc/articles/PMC4586914/ /pubmed/26425634 http://dx.doi.org/10.1177/2324709615574949 Text en © 2015 American Federation for Medical Research http://creativecommons.org/licenses/by/3.0/ This article is distributed under the terms of the Creative Commons Attribution 3.0 License (http://www.creativecommons.org/licenses/by/3.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (http://www.uk.sagepub.com/aboutus/openaccess.htm).
spellingShingle Article
Travan, Laura
Rocca, Maria Santa
Buonomo, Francesca
Cleva, Lisa
Pecile, Vanna
De Cunto, Angela
When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication
title When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication
title_full When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication
title_fullStr When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication
title_full_unstemmed When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication
title_short When Feeding Difficulties Are due to Genetics: The Case of Familial Partial 9q Duplication
title_sort when feeding difficulties are due to genetics: the case of familial partial 9q duplication
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4586914/
https://www.ncbi.nlm.nih.gov/pubmed/26425634
http://dx.doi.org/10.1177/2324709615574949
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