Intussusception in Mosaic Trisomy 14-Reference-Cited by-同舟云学术

Intussusception in Mosaic Trisomy 14

Published:2024-03 Issue:3 Volume:11 Page:e01296
ISSN:2326-3253
Container-title:ACG Case Reports Journal
language:en
Short-container-title:ACG Case Rep J

Author:

Skvarce Jeremy¹,Chatterjee Arjun¹^ORCID,Velez Giselle²,Gurajala Ram³,Schwartz Jeffrey⁴,Braga-Neto Manuel B.⁴

Affiliation:

1. Department of Internal Medicine, Cleveland Clinic Foundation, Cleveland, OH

2. Department of Hospital Medicine, Cleveland Clinic Foundation, Cleveland, OH

3. Department of Interventional Radiology, Cleveland Clinic Foundation, Cleveland, OH

4. Department of Gastroenterology and Hepatology, Digestive Disease Institute, Cleveland Clinic, Cleveland, OH

Abstract

ABSTRACT Mosaic trisomy 14 is exceptionally rare and was first described in the 1970s with fewer than 100 known liveborn individuals. Information about complications and the natural history of the disease is rare, especially in adult patients. This case illustrates an adult patient with severe functional limitations from mosaic trisomy 14 who presented with abdominal pain and failure to thrive and was subsequently found to have intussusception and severe chronic constipation, which was successfully treated conservatively.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Reference12 articles.

1. Trisomy 14 mosaicism including concomitant uniparental disomy: Population frequency, cytogenetic profile, sex ratio, maternal age and obstetric history;Kovaleva;OBM Genet.,2022

2. Partial and complete trisomy 14 mosaicism: Clinical follow-up, cytogenetic and molecular analysis;Salas-Labadía;Mol Cytogenet.,2014

3. Trisomy 14 mosaicism: Clinical and cytogenetic findings in an adult;Fagerberg;Clin Dysmorphol.,2012

4. Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review;Bregand-White;Am J Med Genet A.,2016

5. Mosaic trisomy 14 at amniocentesis: Prenatal diagnosis and literature review;Chen;Taiwan J Obstet Gynecol.,2013