Deletion of macro domain containing 2(MACRO D2) associated with transient hydrops fetalis

Taiwan J Obstet Gynecol. 2018 Dec;57(6):897-898. doi: 10.1016/j.tjog.2018.10.023.

Authors

I Uzun Çilingir¹, N C Sayin², H Gurkan³, N A Çiftdemir⁴, E Atlı³, C İnan², S Erzincan², H Sutcu², U Vatansever⁴, F Varol²

Affiliations

¹ Trakya University, Faculty of Medicine, Department of Perinatology, Turkey. Electronic address: isiluzu@gmail.com.
² Trakya University, Faculty of Medicine, Department of Perinatology, Turkey.
³ Trakya University, Faculty of Medicine, Department of Medical Genetics, Turkey.
⁴ Trakya University, Faculty of Medicine, Department of Pediatrics, Turkey.

PMID: 30545550
DOI: 10.1016/j.tjog.2018.10.023

No abstract available

Keywords: Hydrops fetalis; Kabuki syndrome; Macro D2 gene.

Publication types

Case Reports

MeSH terms

Amniocentesis
DNA Repair Enzymes / genetics*
Fatal Outcome
Female
Gene Deletion*
Gestational Age
Heart Defects, Congenital / genetics
Humans
Hydrolases / genetics*
Hydrops Fetalis / diagnosis
Hydrops Fetalis / genetics*
Karyotyping
Pregnancy
Ultrasonography, Prenatal

Substances

MACROD2 protein, human
Hydrolases
DNA Repair Enzymes