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Rev INSN: 2018;6(1)
del(18q) or dup(18q)/del(18p) recombinant
chromosome. Eur J Hum Genet EJHG. 2005
Jan;13(1):52–8.
21.
Prontera P, Buldrini B, Aiello V, Rogaia D,
Mencarelli A, Gruppioni R, et al. Familial pe-
ricentric inversion of chromosome 18: intrafa-
milial variability of the recombinant dup(18q).
Genet Couns Geneva Switz. 2010;21(1):91–
7.
22. Kariminejad A, Kariminejad R, Moshtagh
A, Zanganeh M, Kariminejad MH, Neuens-
chwander S, et al. Pericentric inversion of
chromosome 18 in parents leading to a phe-
notypically normal child with segmental uni-
parental disomy 18. Eur J Hum Genet EJHG.
2011 May;19(5):555–60.
23. Zamani AG, Acar A, Durakbasi-Dursun G, Yil-
dirim MS, Ceylaner S, Tuncez E. Recurrent
proximal 18p monosomy and 18q trisomy in
a family due to a pericentric inversion. Am J
Med Genet A. 2014 May;164A(5):1239–44.
Familia con inversión pericéntrica del cromosoma 18
26. Boghosian-Sell L, Mewar R, Harrison W, Sha-
piro RM, Zackai EH, Carey J, et al. Molecular
mapping of the Edwards syndrome phenotype
to two noncontiguous regions on chromosome
18. Am J Hum Genet. 1994 Sep;55(3):476–
83.
27.
Cody JD, Hale DE. Making chromosome
abnormalities treatable conditions. Am J
Med Genet C Semin Med Genet. 2015 Sep
1;169(3):209–15.
28. Ning L, Kurihara H, de Vega S, Ichikawa-To-
mikawa N, Xu Z, Nonaka R, et al. Laminin α1
Regulates Age-Related Mesangial Cell Proli-
feration and Mesangial Matrix Accumulation
through the TGF-β Pathway. Am J Pathol.
2014 Jun;184(6):1683–94.
29. Skinner MK, Guerrero-Bosagna C, Haque MM.
Environmentally induced epigenetic transge-
nerational inheritance of sperm epimutations
promote genetic mutations. Epigenetics. 2015
Aug 3;10(8):762–71.
24. Quiroga R, Monfort S, Oltra S, Ferrer-Bolufer
I, Roselló M, Mayo S, et al. Partial duplication
of 18q including a distal critical region for Ed-
wards Syndrome in a patient with normal phe-
notype and oligoasthenospermia: case report.
Cytogenet Genome Res. 2011;133(1):78–83.
Recibido: 08/11/2017
Aprobado: 21/11/2017
25. Cereda A, Carey JC. The trisomy 18 syndro-
me. Orphanet J Rare Dis. 2012;7:81.
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