Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22.
- Author:
Ah Rum OH
1
;
Bom Yee LEE
;
Ene Yuong CHOI
;
Hyun Mee RYU
;
Seung Jae LEE
;
Ji Ye JUNG
;
So Yeon PARK
Author Information
1. Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea. paranip@yahoo.co.kr
- Publication Type:Case Report
- Keywords:
Satellited chromosome;
Prenatal de novo translocation;
8ps
- MeSH:
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
- From:Journal of Genetic Medicine
2011;8(2):135-138
- CountryRepublic of Korea
- Language:Korean
-
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.
