염색체 1번, 7번, 16번을 침범하는 균형복합염색체재배열을 가진 불임 여성 1예
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
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3개 이상의 염색체를 침범하는 균형복합염색체재배열은 비정상적인 산과력을 가진 정상표현형의 여성에서 종종 발견된다. 저자들은 2회의 체외수정술에 실패한 과거력이 있는 32세의 정상 표현형을 가진 여성에서 염색체 1번, 7번, 16번을 침범하는 균형복합염색체재배열을 발견하였다. 세포유전학적 분석에서 환자는 46,XX,t(1;7;16)(p32.1;q22;q13)의 복합핵형을 나타내었다. 환자는 체외수정술후 쌍태아를 임신하였으나 6주째 검진에서 태아 심장박동이관찰되지 않았다. 자궁내 사망한 태아의 조직으로 염색체 분석을시행한 결과 46,XX,t(1;7;16)(p32.1;q22;q13)mat와 46,XY,der(1)t(1;16)(p32.1;q13), der(7)t(1;7)(p32.1;q22)mat의 핵형을 나타내었다. 이 증례는 불임여성 또는 남성에서 염색체검사의 필요성과 중요성을 보여 주었다. 불임클리닉에서는 산전진단과 추가적인 상담을 위하여 염색체검사를 통한 복합염색체재배열 등을 확인하는 것이필요할 것으로 생각된다.
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-year-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.
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