Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13), analyzed by using sperm karyotyping and two-color fluorescence in situ hybridization on sperm nuclei

1997 ◽  
Vol 99 (6) ◽  
pp. 761-765 ◽  
Author(s):  
P. Colls ◽  
J. Blanco ◽  
O. Martínez-Pasarell ◽  
F. Vidal ◽  
J. Egozcue ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Chromosome Segregation ◽  
Pericentric Inversion ◽  
Sperm Nuclei

Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations

Blood ◽  
1992 ◽  
Vol 79 (5) ◽  
pp. 1299-1304 ◽  
Author(s):  
JG Dauwerse ◽  
EA Jumelet ◽  
JW Wessels ◽  
JJ Saris ◽  
A Hagemeijer ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Acute Leukemia ◽  
Fluorescence In Situ Hybridization ◽  
Pericentric Inversion ◽  
Repetitive Elements ◽  
Leukemic Cells ◽  
Acute Nonlymphocytic Leukemia ◽  
Chromosome 16

Abstract Specific rearrangements of chromosome 16 are well known in acute nonlymphocytic leukemia with abnormal eosinophils. While mapping cosmids relative to breakpoints in chromosome 16 in leukemic cells with fluorescence in situ hybridization (FISH), we have identified three areas of extensive cross-homology between 16p and 16q. Three cosmids among 99 tested showed two large signals on the short arm and one signal on the long arm of chromosome 16. A fourth cosmid showed mainly two signals on the short arm. With the 16p-specific cosmid we can demonstrate that the breakpoints of a pericentric inversion and a reciprocal (16;16) translocation, both of which are characteristic for acute leukemia, map to the most distal of two blocks on the short arm. We suggest that there may be at least two distinct repetitive elements specific for chromosome 16 interdigitated on 16p. The presence of a similar repeat in the short, as well as the long arm of the chromosome, may play a role in the origin of chromosome 16 rearrangements in acute leukemia.

scholarly journals The abnormal eosinophils are part of the leukemic cell population in acute myelomonocytic leukemia with abnormal eosinophils (AML M4Eo) and carry the pericentric inversion 16: a combination of May-Grunwald- Giemsa staining and fluorescence in situ hybridization

Blood ◽  
1996 ◽  
Vol 87 (6) ◽  
pp. 2459-2463 ◽  
Author(s):  
T Haferlach ◽  
M Winkemann ◽  
H Loffler ◽  
R Schoch ◽  
W Gassmann ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Cell Population ◽  
Pericentric Inversion ◽  
Yeast Artificial Chromosome ◽  
Leukemic Cell ◽  
Giemsa Staining ◽  
Acute Myelomonocytic Leukemia ◽  
Myelomonocytic Leukemia

The French-American-British subtype acute myelomonocytic leukemia with abnormal eosinophils (FAB AML M4Eo) with pericentric inversion of chromosome 16 is cytomorphologically defined by a myelomonoblastic blast population and abnormal eosinophils. Until now, it remained an open question whether these abnormal eosinophils are part of the malignant clone or an epiphenomenon. We analyzed five cases of AML M4Eo with inv(16) and combined May-Grunwald-Giemsa staining with fluorescence in situ hybridization using yeast artificial chromosome clone 854E2, which spans the inv(16) breakpoint on 16p. In the case of inv(16), three instead of the normal two hybridization signals can be observed both on metaphase spreads and in interphase cells. With this approach, we were able to show inversion 16 in abnormal eosinophils and, therefore, identified them as a part of the leukemic cell population.

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