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Case Reports
. 2020 Oct-Dec;21(4):308-311.
doi: 10.18502/jri.v21i4.4325.

A Novel De Novo Chromosomal Insertion, 46 XX, ins(7:13)(p14; q14.2q21.1) is Related to the Embryo Development Arrest Following Assisted Reproductive Technique

Azam Azargoon  1   2 , Nahid Azad  1   3
Affiliations
Case Reports

A Novel De Novo Chromosomal Insertion, 46 XX, ins(7:13)(p14; q14.2q21.1) is Related to the Embryo Development Arrest Following Assisted Reproductive Technique

Azam Azargoon et al. J Reprod Infertil. 2020 Oct-Dec.

Abstract

Background: Infertility is a problem affecting a large number of couples in the world. One of the causes of infertility can be chromosomal rearrangements such as insertions. In this case report study, the outcome of two intra-cytoplasmic sperm injection (ICSI) cycles of an infertile woman with de novo chromosomal insertion is explained.

Case presentation: A couple with a 10-year history of infertility referred to our infertility clinic. The husband had a daughter in his first previous marriage. The wife had a 7 and a 10 year history of infertility in the first and second marriages, respectively. In the first marriage, she reported a history of 2 failed intra-uterine insemination (IUI) cycles. In the second marriage, she had a history of 1 spontaneous abortion at 12 weeks of pregnancy, 4 failed IUI cycles, and 1 failed ICSI cycle. The couple was subjected to ICSI cycles twice and failed due to embryo development arrest. The couple referred for karyotyping. The husband showed a normal male karyotype. In comparison, the wife revealed an abnormal female karyotype with two rearrangements: chromosome 13 with an interstitial deletion between bands q14.2 and q21.1, and a derivative chromosome 7 containing this segment of chromosome 7 as an insertion onto short arm at the p14 position.

Conclusion: To the best of our knowledge, this is the first report of insertion 46 XX, ins(7:13)(p14; q14.2q21.1) which is associated with the embryo development arrest following assisted reproductive technique.

Keywords: Assisted reproductive technique; Chromosomal rearrangement; Cytogenetic analysis; IVF failure; Infertility woman.

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Conflict of interest statement

Conflict of Interest The authors declare that they have no conflict of interest.

Figures

Figure 1.
Figure 1.
The morphology of oocytes and embryos derived from the infertile woman with an abnormal karyotype. Black arrows show SER cluster in the oocytes. Bar: 20 µm
Figure 2.
Figure 2.
Karyotype analysis in an infertile woman showing a de novo insertion between chromosomes 7 and 13
See this image and copyright information in PMC

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