Prenatal diagnosis of de novo unbalanced translocation 8p;21q using subtelomeric probes

Ozkinay F., Kanit H., Onay H., Cogulu O., GÜNDÜZ C., Ercal D., ...More

GENETIC COUNSELING, vol.17, no.3, pp.315-320, 2006 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 17 Issue: 3
  • Publication Date: 2006
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.315-320
  • Keywords: 8p+, t(8;21), unbalanced translocation, prenatal diagnosis, INTERSTITIAL DUPLICATION, INTERPHASE FISH, 8P, CARRIERS, DELETION, TRISOMY
  • Dokuz Eylül University Affiliated: No

Abstract

We report an unbalanced translocation involving chromosomes 8 and 21 in a fetus showing ultrasonographic abnormalities in the second trimester of pregnancy. A 41-year-old pregnant woman, gravida 1 para 0, was referred to the Genetics Clinic at the 16th week of gestation because of advanced maternal age and fetal pelvicaliectasis on ultrasonographic examination. Pregnancy had occurred following ICSI treatment. After genetic counseling amniocentesis was performed. Fetal karyotype analysis revealed a 46,XY,8p+ karyotype. Ultrasonographic examination was repeated at the 20(th) week of gestation and showed intrauterine growth retardation, ventriculomegaly, cerebellar structural abnormality and pelvicaliectasis. Chromosomes of both parents were normal. Molecular cytogenetic studies (FISH) using chromosome-specific subtelomere probes showed a terminal deletion of 8p and trisomy of the 21q subtelomeric region. Further analysis with Down Syndrome specific region probes revealed two signals. The couple decided to terminate the pregnancy. This is the first prenatally diagnosed case of unbalanced t(8p;21q) of de novo origin.