"Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes.
"Ring syndrome" is described as those cases with complete ring chromosomes showing, independently of the chromosome involved, severe growth failure, minor dysmorphic features, and mild-to-moderate mental retardation, without major malformations. We present a girl with ring 2 chromosome, exhibiting severe growth failure, minor dysmorphic features, spontaneously closed ventricular septum defect, and normal development. G-banding chromosome analysis and fluorescence in situ hybridization (FISH) analysis using chromosome-specific subtelomeric probes (2ptel, 2qtel) demonstrated the major karyotype as 46,XX,r(2)(p25.3q37.3).ish r(2)(2ptel+,2qtel+). We review the cases with "ring syndrome" confirmed by FISH using chromosome-specific subtelomeric probes, suggesting that this method might be useful to predict developmental prognosis in a case with an apparently complete ring chromosome.
Kosho
T
T
Division of Medical Genetics, Saitama Children's Medical Center, Iwatsuki, Saitama 339-8551, Japan. ktomoki@hsp.md.shinshu-u.ac.jp
Matsushima
K
K
Sahashi
T
T
Mitsui
N
N
Fukushima
Y
Y
Sobajima
H
H
Ohashi
H
H
D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D015342:DNA Probes / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D012303:Ring Chromosomes; D034501:Telomere-Binding Proteins / Q000235:genetics*
D015342:DNA Probes; D034501:Telomere-Binding Proteins