Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders: case 4

Kavita S Reddy, Kathy Richkind  

Genzyme Genetics, Orange, CA. Kavita.reddy@gmail.com

Previous history

Preleukaemia
-
Malignant disease
No clinical information

Clinics case report

Age
66 yrs
Sex
F

Blood data

Wbc
4.16
Hb
13.5
Platelets
103

Cyto path

Precise diagnosis
Myelodysplastic syndrome (MDS): pancytopenia and thrombocytopenia

Survival data

Relapse
-
Status
No clinical information
Survival
1 +

Karyotype

Sample
BM
Culture time
24/48 unstimulated cultures
Banding
G-banding
Results
46,X,t(X;20)(q13;q13.3)[3].ish t(X;20)(q11.2-12;q13.3) (wcpX+, wcp20+, AR_; wcp20+, D20S108+, AR+, wcpX+)/46,XX[18]
Mol cytogenet results
46,X,t(X;20)(q13;q13.3)[3].ish t(X;20)(q11.2-12;q13.3) (wcpX+,wcp20+,AR_;wcp20+,D20S108+,AR+,wcpX+)/46,XX[18]

Other findings

Note
In case 4, the breakpoint on X-chromosome was found to be more proximal between Xq11.2q-12 by FISH using androgen receptor probe

Images

Atlas Image
Fig. 1. Partial karyotypes of the translocation t(X;20)(q13;q13.3) for cases 1ï4 (top to bottom). Arrows indicate the derivatives 20 and X.
Atlas Image
Fig 2: Case 4: X-centromere probe DXZ1 (green) hybridized to the normal X and the derivative X (arrows). The androgen receptor (Xq12) AR (red) probe hybridized to derivative 20 and the normal X (arrows). The breakpoint on the X chromosome is proximal to AR. The karyotype is 46,X,t(X;20)(q13;q13.3).ish t(X;20)(q11.2q12;q13.3)(wcpX+, wcp20+, AR_; wcp20+, D20S180_, AR+, wcpX+). The revised breakpoints identified with FISH analysis are highlighted in bold.

Article Bibliography

Pubmed IDLast YearTitleAuthors
76279391995Biclonal acute monoblastic leukemia showing del(7q) and trisomies 9 and 22.Wong KF et al
126061382003Translocation (X;20)(q13.1;q13.3) as a primary chromosomal finding in two patients with myelocytic disorders.Gray BA et al
156761512005Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders.Reddy KS et al

Citation

Kavita S Reddy, Kathy Richkind

Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders: case 4

Atlas Genet Cytogenet Oncol Haematol. 2005-01-01

Online version: http://atlasgeneticsoncology.org/case-report/208810/favicon/js/lib/gene-fusions-explorer/