J Genet Med.  2011 Dec;8(2):135-138.

Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22

• Oh AR
• Lee BY
• Choi EY
• Ryu HM
• Lee SJ
• Jung JY
• Park SY

Abstract

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 rearrangement among other chromosomes.

Keyword

Satellited chromosome; Prenatal de novo translocation; 8ps

MeSH Terms

Adult
Amniocentesis
Arm
Chromosome Aberrations
Chromosomes, Human, Pair 8
Cytogenetic Analysis
Cytogenetics
Female
Fluorescence
Humans
In Situ Hybridization
Karyotype
Mass Screening
Maternal Age
Metaphase
Nucleolus Organizer Region
Parents
Pregnancy
Prenatal Diagnosis