Telomeric fusion and chromosome instability in multiple tissues of a patient with mosaic Ullrich-Turner syndrome

Journal Article · Mon Apr 14 00:00:00 EDT 1997 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19970414)69:4<383::AID-AJMG9>3.3.CO;2-2· OSTI ID:539212

Sawyer, J R; North, P E; Hassed, S J ^[1]

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1. Univ. of Arkansas for Medical Sciences, Little Rock, AR (United States); and others

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 chromosome 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 45X46,XY UTS patients, and provides evidence that clonal telomeric fusions may, in rare cases, be associated with chromosomal malsegregation and with the subsequent evolution of unstable karyotypes. 27 refs., 3 figs.

• OSTI ID: 539212
• Journal Information: American Journal of Medical Genetics, Vol. 69, Issue 4; Other Information: PBD: 14 Apr 1997
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
HEREDITARY DISEASES
KARYOTYPE
UROGENITAL SYSTEM DISEASES
HUMAN Y CHROMOSOME
GENETIC MAPPING
MOSAICISM
ANEUPLOIDY
CHROMOSOMAL ABERRATIONS
TELOMERES
MUTATIONS
GENES
GENE AMPLIFICATION
BANDING TECHNIQUES
FLUORESCENCE
IN-SITU HYBRIDIZATION
GONADS