Lab Med Online.  2013 Jul;3(3):178-182. 10.3343/lmo.2013.3.3.178.

A Complex Chromosomal Rearrangement Involving 46,XX,t(1;7;16)(p32.1;q22;q13) in a Female with Recurrent Miscarriages After in vitro Fertilization

Affiliations
  • 1Department of Laboratory Medicine, Yonsei University Wonju College of Medicine, Wonju, Korea. juwon76@yonsei.ac.kr
  • 2Department of Gynecology and Obstetrics, Yonsei University Wonju College of Medicine, Wonju, Korea.

Abstract

Balanced complex chromosomal rearrangements involving three or more chromosomes are often detected in phenotypically normal female patients with an adverse obstetric history. Here, we report a 32-yr-old phenotypically normal female with a history of multiple in vitro fertilization (IVF) failures and carrying a balanced complex chromosomal rearrangement involving chromosomes 1, 7, and 16. Cytogenetic analysis revealed the following complex karyotype: 46,XX,t(1;7;16)(p32.1;q22;q13). The patient achieved a twin pregnancy after IVF, although no heartbeat was detected during the sixth gestational week checkup. Tissues from intrauterine fetal demise were tested for chromosomal analysis and revealed 46,XX,t(1;7;16)(p32.1;q22;q13)mat and 46,XY,der(1)t(1;16)(p32.1;q13),der(7)t(1;7) (p32.1;q22)mat. This case illustrates the importance of chromosomal analysis in infertile females or infertile females with multiple IVF failures. Therefore, it would be beneficial for patients visiting infertility clinics to undergo cytogenetic screening for complex chromosome rearrangements before further counseling and prenatal investigations.

Keyword

Complex chromosomal rearrangement; Infertility; in vitro fertilization
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