Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay.
10.3345/kjp.2008.51.4.426
- Author:
Yun Mi PARK
1
;
Han Nae NHO
;
Sook Za KIM
;
Young Min AHN
Author Information
1. Department of Laboratory Medicine, Eulji University School of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Ring chromosome 9;
Clinical implication;
Cytogenetic;
FISH studies
- MeSH:
Arm;
Chimera;
Cytogenetics;
Failure to Thrive;
Fluorescence;
Humans;
In Situ Hybridization;
Karyotype;
Phenotype;
Ring Chromosomes
- From:Korean Journal of Pediatrics
2008;51(4):426-430
- CountryRepublic of Korea
- Language:English
-
Abstract:
We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the subtelomere-specific sequences on chromosome 9p and 9q, revealed 46,XX,r(9)(p24q34),ish r(9)(D9S913-,D9S325+). Failure to detect any hybridization of a probe for the subtelomeric sequences in the ring 9p terminal suggested that this ring arose from breakage in the distal short arm. The cytogenetic and FISH data in our case provided further evidence for the existence of a "complete ring" phenotype with incomplete subtelomeric sequences.
