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Case Reports
. 2012;67(6):669-72.
doi: 10.6061/clinics/2012(06)19.

A familial rearrangement(3;5;9) with paternal and maternal transmission leading to a duplication 3p/ deletion 5p infant

Horacio Rivera  1 , María G Domínguez
Affiliations
Case Reports

A familial rearrangement(3;5;9) with paternal and maternal transmission leading to a duplication 3p/ deletion 5p infant

Horacio Rivera et al. Clinics (Sao Paulo). 2012.
No abstract available

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Conflict of interest statement

No potential conflict of interest was reported.

Figures

Figure 1
Figure 1
Partial G-banded karyotypes of the familial rea(3;5;9)(p24.3;p13.1p15.2;q22). Upper row: the child's unbalanced karyotype, with only the 5 and 9 derivatives; the patient had a duplication of 3p24.3→pter concomitant with a deletion of 5p15.2→pter. Lower row: the mother's balanced karyotype, with all three derivatives. Except for the patient's normal pair 3, the derivative is on the right in each pair.
Figure 2
Figure 2
FISH karyotype analyses of the patient (a) and his balanced mother (b-d). a: The 3p subtel probe (green) hybridized to both the normal 3 and the der(9). b: The 5p subtel probe (green) hybridized to both the normal 5 and the der(3). c: The combined cri du chat (green/red)/Sotos (green) probe confirmed the translocation of 5p15.2→pter onto 3p24.3; i.e., the der(3) had both 5p or cri du chat signals, whereas the der(5) exhibited only the 5q35 Sotos signal. d: The ABL (red)/BCR probe (green) hybridized to both the normal 9 and the der(5) and to both copies of chromosome 22. DAPI counterstained images are on the right.
See this image and copyright information in PMC

References

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