A novel male 2;4;14 complex chromosomal translocation with normal semen parameters but 100% embryonic aneuploidy

Jade Mas; Reem Sabouni; Silvina Bocca

doi:10.1007/s10815-018-1126-4

A novel male 2;4;14 complex chromosomal translocation with normal semen parameters but 100% embryonic aneuploidy

J Assist Reprod Genet. 2018 May;35(5):907-912. doi: 10.1007/s10815-018-1126-4. Epub 2018 Jan 29.

Authors

Jade Mas¹, Reem Sabouni², Silvina Bocca³

Affiliations

¹ Stamford Hospital, Stamford, CT, 06902, USA.
² The Jones Institute for Reproductive Medicine, EVMS, 601 Colley Ave, Norfolk, VA, 23507, USA.
³ The Jones Institute for Reproductive Medicine, EVMS, 601 Colley Ave, Norfolk, VA, 23507, USA. boccas@evms.edu.

Abstract

We report a case of a couple with a history of six spontaneous miscarriages in which a novel complex chromosomal rearrangement was detected in the male partner who had a totally normal semen analysis. Preimplantation genetic testing of their embryos demonstrated 100% aneuploidy.

Keywords: Male complex translocation; Recurrent miscarriages.

Publication types

Case Reports

MeSH terms

Abortion, Habitual / genetics
Adult
Aneuploidy*
Blastocyst / physiology*
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 4
Female
Humans
Male
Preimplantation Diagnosis
Semen / physiology*
Semen Analysis
Sperm Injections, Intracytoplasmic
Translocation, Genetic*