Xp22.33 Deletion: A Cause of Fetal Demise in a Male Fetus

Van Berkel Kim, Leyder Mina, Cannie Mieke, Goossens Annieta and Keymolen Kathelijn

Department of Obstetrics and Prenatal Medicine, Universitair Ziekenhuis Brussel, Belgium
Department of Radiology, Universitair Ziekenhuis Brussel Belgium
Department of Anatomoathology, Universitair Ziekenhuis Brussel, Belgium
Department of Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Belgium

^*Correspondance to: Van Berkel Kim 

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Abstract:

We describe a pedigree in which a couple had one healthy boy and two pregnancies of male fetuses with fetal demise at 18 weeks, respectively 22 weeks of gestation. Both fetuses presented dysmorphic features at expulsion and were found to have an Xp22 deletion, encompassing 9 genes among which the SHOX gene. The mother carries this deletion and presents very mild phenotypic features. We believe this deletion is responsible for intrauterine demise in male fetuses.

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Cite the Article:

Van Berkel Kim, Mina L, Mieke C, Annieta G, Kathelijn K. Xp22.33 Deletion: A Cause of Fetal Demise in a Male Fetus. Ann Clin Case Rep. 2016; 1: 1218.