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  • 标题:Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay
  • 作者:Park, Yun Mi ; Nho, Han Nae ; Kim, Sook Za
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2008
  • 卷号:51
  • 期号:4
  • 页码:426-430
  • DOI:10.3345/kjp.2008.51.4.426
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    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.

  • 关键词:Ring chromosome 9; Clinical implication; Cytogenetic; FISH studies
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