J Genet Med.  2007 Jun;4(1):80-83.

Prenatal diagnosis of a de novo ring chromosome 11

Affiliations
  • 1Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea.
  • 2Department of Obstetrics and Gynecology, Kwandong University College of Medicine, Seoul, Korea.

Abstract

A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/45,XX,-11[16]/46,XX[34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine growth restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring were detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.

Keyword

Ring chromosome 11; Intrauterine growth restriction (IUGR); Ring formation; Ring instability; Prenatal
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