| Cytogenetic evaluation of a patient with ring chromosome 9
presenting failure to thrive and developmental delay |
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Yun Mi Park1, Han Nae Nho2, Sook Za Kim3, Young Min Ahn2 |
1Department of Laboratory Medicine, Eulji University School of Medicine, Seoul, Korea
2Department of Pediatrics, Eulji University School of Medicine, Seoul, Korea
3Department of Korea Genetics Research Center, Eulji University School of Medicine, Seoul, Korea |
| 성장부진과 발달지연을 보인 환아에서 확인된환상 9번 염색체 1례의 세포유전학적인 연구 |
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박윤미1, 노한내2, 김숙자3, 안영민2 |
1을지의과대학교 을지병원 진단검사의학교실
2을지의과대학교 을지병원 소아과학교실
3을지의과대학교 을지병원 한국 유전학 연구소 |
Correspondence:
Young Min Ahn, Email: aym3216@eulji.or.kr
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| Abstract |
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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. |
| Key Words:
Ring chromosome 9, Clinical implication, Cytogenetic, FISH studies |
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