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KMID : 1189120070040010080
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대한의학유전학회지
2007 Volume.4 No. 1 p.80 ~ p.83
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Prenata diagnosis of a de novo ring chromosome 11
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Park Ju-Yeon
Ryu Hyun-Mee
Lee Moon-Hee
Lee Bom-Yi
Lee Yeon-Woo
Park So-Yeon
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Abstract
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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.
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KEYWORD
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Ring choromosome 11, Intrauterine growth restriction (IUGR), Ring formation, Ring instability, Prenatal
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