When Feeding Difficulties Are due to Genetics-Reference-Cited by-同舟云学术

When Feeding Difficulties Are due to Genetics

Published:2015-02-18 Issue:1 Volume:3 Page:232470961557494
ISSN:2324-7096
Container-title:Journal of Investigative Medicine High Impact Case Reports
language:en
Short-container-title:Journal of Investigative Medicine High Impact Case Reports

Author:

Travan Laura¹,Rocca Maria Santa¹,Buonomo Francesca¹,Cleva Lisa¹,Pecile Vanna¹,De Cunto Angela¹

Affiliation:

1. Institute 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.

Publisher

SAGE Publications

Subject

Safety Research,Safety, Risk, Reliability and Quality,Epidemiology

Link

http://journals.sagepub.com/doi/pdf/10.1177/2324709615574949

Reference13 articles.

1. Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter)

2. Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review

3. Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features

4. Involvement of 9q22.1-31.3 region in pyloric stenosis

5. BDNF regulates eating behavior and locomotor activity in mice

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1. 11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation;Molecular Genetics & Genomic Medicine;2023-07-21

2. Prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes;Taiwanese Journal of Obstetrics and Gynecology;2021-03

3. A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33;Gene;2016-12