ArticleClinical case reports2023
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.
Article in Clinical case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Anatomical Variant or Pathological Anomaly? A Case Report of an Asymptomatic Cardiac Apical Cleft.International medical case reports journal · 2026Article
- Intrauterine phenotype, genetic analysis, and pregnancy follow-up of fetuses with the 16p12.2 microdeletion.Frontiers in genetics · 2025Article
- 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.Clinical case reports · 2023Article
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Authors and funding
5 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Key Clinical Message: From 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. Abstract: Prenatal 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.
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