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KMID : 1189120110080020135
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대한의학유전학회지
2011 Volume.8 No. 2 p.135 ~ p.138
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Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22
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Oh Ah-Rum
Lee Bom-Yi
Choi Ene-Yuong
Ryu Hyun-Mee
Lee Seung-Jae
Jung Ji-Ye
Park So-Yeon
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Abstract
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The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred for amniocentesis because of her advanced maternal age and positive result for maternal serum screening test. Cytogenetic analysis of cultured amniocytes showed a satellite 8p chromosome. The satellite 8p chromosome was positive for nucleolus organizer region (NOR) staining. The parents’ karyotypes were normal. Fluorescence in situ hybridization (FISH) study for metaphases of fetal amniocytes revealed a cryptic translocation of chromosomes 8p and 22p. The fetal karyotype was described as 46,XY,8ps.ish t(8;22)(p23.3;p11.2) (D8S504-;D8S504+)dn. The parents decided to continue the pregnancy and a phenotypically normal boy was born at 38 weeks of gestation. In case of de novo terminal NORs detected prenatally, more accurate cytogenetic and molecular analysis should be performed in order to rule out cryptic chromosomal earrangement among other chromosomes.
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KEYWORD
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Satellited chromosome, Prenatal de novo translocation, 8ps
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