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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

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References

    1. Cerruti Mainardi P. Cri du chat syndrome. Orphanet J Rare Dis. 2006;1:33. - PMC - PubMed
    1. Bittel DC, Kibiryeva N, Dasouki M, Knoll JH, Butler MG. A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis. Am J Med Genet. 2006;140A:573–9. - PMC - PubMed
    1. Gruchy N, Barreau M, Kessler K, Gourdier D, Leporrier N. A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations. Am J Med Genet. 2010;152A:185–90. - PubMed
    1. Siffroi JP, Benzacken B, Straub B, Le Bourhis C, North MO, Curotti G, et al. Assisted reproductive technology and complex chromosomal rearrangements: the limits of ICSI. Mol Hum Reprod. 1997;3(10):847–51. - PubMed
    1. Pellestor F, Anahory T, Lefort G, Puechberty J, Liehr T, Hédon B, et al. Complex chromosomal rearrangements: origin and meiotic behavior. Hum Reprod Update. 2011;17(4):476–94. - PubMed

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