0 465

Cited 4 times in

Tandem translocation of chromosomes 22 and 15 with two preserved satellite stalk regions and deletion 22q13.3–qter

Authors
 Kyung A Lee  ;  Sun Hee Kim  ;  Moon Hyang Lee  ;  Mark E. Law  ;  Syed M. Jalal 
Citation
 AMERICAN JOURNAL OF MEDICAL GENETICS , Vol.104(4) : 291-294, 2001 
Journal Title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN
 0148-7299 
Issue Date
2001
MeSH
Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Child, Preschool ; Chromosome Deletion* ; Chromosomes, Human, Pair 15/genetics* ; Chromosomes, Human, Pair 22/genetics* ; Female ; Growth Disorders/pathology ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Translocation, Genetic*
Keywords
tandem 22/15 translocation ; 22q13.3 deletion ; interstital NOR
Abstract
We describe here a case of a tandem 22/15 translocation with deletion of the 22q13.3–qter region and retention of the NOR of chromosome 15. A 2½-year-old Korean girl was referred for chromosome analysis after a clinical evaluation for developmental delay. Physical examination revealed hypotonia, developmental delay, delay of gross motor milestones and speech delay. No dysmorphic features of face, hands or feet were evident in the patient. G-banded peripheral blood lymphocyte chromosomes showed a tandem translocation between chromosomes 22 and 15, with the satellite stalks of chromosome 15 apparently being retained. All-telomere FISH analysis using a TTAGGG repeat probe showed absent signals at the junction of the translocation. Sequential G-banding and FISH analysis using a beta satellite probe showed positive signals close to the junction of the translocation, an indication that the short arms of the chromosome 15 involved in the translocation are retained. FISH with a probe for arylsulfatase, mapped to 22q13.3 region, was negative on the translocation chromosome. Therefore, the 22q13.3 region is deleted
Full Text
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.10093/abstract
DOI
10.1002/ajmg.10093
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/141975
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse

Links