父源16p12.2微小缺失胎儿的双叉心尖与海绵状心肌病。关于16p12.2微缺失家庭沟通的关键点。
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.
作者信息
Stabile Mariano, Rispoli Anna F, Capuozzo Maurizio, Ferbo Umberto, Stabile Guglielmo
机构信息
Zygote Center: Center for Genetics-Prenatal Diagnosis-Fertility Salerno Italy.
Centro Direzionale di Napoli Innovalab Scarl Napoli Italy.
出版信息
Clin Case Rep. 2023 Jul 2;11(7):e7602. doi: 10.1002/ccr3.7602. eCollection 2023 Jul.
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.
关键临床信息
通过文献回顾，这是首例从表型正常的父亲遗传而来的胎儿16p12.2微缺失综合征病例，并伴有尸检描述及海绵状心肌病证据。孕早期服用强力霉素可能是一个辅助因素。
摘要
本文报道了一例患有畸形的20周胎儿，其16p12.2微缺失是从表型正常的父亲遗传而来。心肌组织病理学检查（文献中的65例病例均未提及）显示心脏心尖双叶及海绵状结构。文中讨论了缺失基因与心肌病之间的相关性。
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