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chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases.
It results in juxtaposition of the 5' part of the BCR gene on chromosome
22 and the 3' part of the ABL1
gene on chromosome 9. An additional acquired monosomy 7 or deletion of 7q is
associated with poor prognosis in a variety of myeloid disorders. Here we
report a novel Ph chromosome positive CML case with a ring chromosome 7 [r(7)].
Immunophenotyping was compatible with CML, although 4.5% of total leucocytes
appeared like acute myelogeneous leukemia (AML) subtype M2. The r(7) was characterized
in detail by array-proven multicolor banding (aMCB), the latter being of
enormous significance to characterize breakpoint regions in detail. Underlying
mechanisms and prognostic are discussed, as ring chromosomes are rare
cytogenetic abnormalities in hematopoietic malignancies.
Here we report a family with a clinical spectrum of
Pachyonychia Congenita Tarda (PCT) encompassing two generations via a balanced
chromosomal translocation between 4q26 and 12p12.3. We discuss the effects of
chromosomal translocations on gene expression through involved breakpoints
and structural gene abnormalities detected by array CGH. We believe that the
family we present gives further insight to the better understanding of
molecular and structural basis of keratin disorders, and to the late onset
and genetic basis of PCT through the possible role of C-type lectins and human
epithelial membrane protein1 (EMP1).
Better understanding of the molecular basis of keratin disorders is the
foundation for improved diagnosis, genetic counseling and novel therapeutic
approaches to overcome the current treatment limitations related to this