PMID- 9098487
OWN - NLM
STAT- MEDLINE
DCOM- 19970714
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 69
IP  - 4
DP  - 1997 Apr 14
TI  - Telomeric fusion and chromosome instability in multiple tissues of a patient with 
      mosaic Ullrich-Turner syndrome.
PG  - 383-7
AB  - We describe the cytogenetic evolution of multiple cell lines in the gonadal 
      tissue of a 10-year-old girl with mosaic Ullrich-Turner syndrome (UTS) involving 
      clonal telomeric associations (tas) of the Y chromosome. G-band analysis of all 
      tissues showed at least 2 cell lines; 45, X and 46,X,tas(Y;21)(q12;p13). However, 
      analysis of left gonadal tissue of this patient showed the evolution of 2 
      additional cell lines, one designated 45,X,tas(Y;21)(q12;p13),-22 and the other 
      46,X,tas(Y;21)(q12;p13),+tas(Y;14)(q12;p13), -22. Fluorescence in situ 
      hybridization (FISH) analysis of interphase nuclei from uncultured gonadal tissue 
      confirmed the findings of aneuploidy in the left gonadal tissue and extended the 
      findings of aneuploidy to the tissue of the right gonad. The chromosome findings 
      in the gonadal tissue of this patient suggest a preneoplastic karyotype relating 
      to several distinct tumor associations. The clonal evolution of telomeric fusions 
      indicates chromosomes instability and suggests the extra copy of the Y chromosome 
      may have resulted from a fusion-related malsegregation. In addition, the extra Y 
      suggests low-level amplification of a putative gonadoblastoma gene, while the 
      loss of chromosome 22 suggests the loss of heterozygosity for genes on chromosome 
      22. This case demonstrates the utility of the study of gonadal tissue in 
      45,X/46XY UTS patients, and provides evidence that clonal telomeric fusions may, 
      in rare cases, be associated with chromosome malsegregation and with the 
      subsequent evolution of unstable karyotypes.
FAU - Sawyer, J R
AU  - Sawyer JR
AD  - Department of Pathology, University of Arkansas for Medical Sciences, Little 
      Rock, USA.
FAU - Swanson, C M
AU  - Swanson CM
FAU - Lukacs, J L
AU  - Lukacs JL
FAU - Hassed, S J
AU  - Hassed SJ
FAU - Curtis, M A
AU  - Curtis MA
FAU - North, P E
AU  - North PE
FAU - Kozlowski, K J
AU  - Kozlowski KJ
FAU - Pihoker, C
AU  - Pihoker C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Child
MH  - Chromosomes
MH  - Female
MH  - Humans
MH  - *Sex Chromosome Aberrations
MH  - Telomere
MH  - Turner Syndrome/*genetics
EDAT- 1997/04/14 00:00
MHDA- 2000/06/20 09:00
CRDT- 1997/04/14 00:00
PHST- 1997/04/14 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/04/14 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19970414)69:4<383::AID-AJMG9>3.0.CO;2-M [pii]
PST - ppublish
SO  - Am J Med Genet. 1997 Apr 14;69(4):383-7.