Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion-Reference-Cited by-同舟云学术

Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion

Published:2023-07 Issue:7 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Stabile Mariano¹^ORCID,Rispoli Anna F.¹,Capuozzo Maurizio²,Ferbo Umberto³,Stabile Guglielmo⁴^ORCID

Affiliation:

1. Zygote Center: Center for Genetics—Prenatal Diagnosis—Fertility Salerno Italy

2. Centro Direzionale di Napoli Innovalab Scarl Napoli Italy

3. Istituto Diagnostico Varelli Napoli Italy

4. Departments of Obstetrics and Gynecology IRCCS “Burlo Garofolo” Trieste Italy

Abstract

Key Clinical MessageFrom a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious cardiomyopathy. First trimester intake of doxycycline could be a cofactor.AbstractPrenatal diagnosis of a 16p12.2 microdeletion, inherited from normal father, is reported in a dysmorphic 20 weeks fetus. Histopathological examination of the myocardium (not present in the 65 cases in literature) showed bifid apex of the heart and spongiotic structure. Correlation between the deleted genes and cardiomyopathy is discussed.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7602

Reference14 articles.

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3. National Center for Biotechnology Information.ClinVar; [VCV000151156.2];16p12.3‐12.2(chr16:20408020‐21244474)x1. Accessed march 2023. Available from:https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000151156.2

4. Myocardium-Specific Deletion of Rac1 Causes Ventricular Noncompaction and Outflow Tract Defects

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1. Doxycycline;Reactions Weekly;2023-08-12