Revista V6N1 CM-INSN Enero 2018 Revista CM V6N1 Enero 2018 | Page 71

Rev INSN: 2018;6(1)
Poterico Julio et al
Referencias Bibliográficas
1. de la Chapelle A, Schröder J, Stenstrand K,
Fellman J, Herva R, Saarni M, et al. Pericen-
tric inversions of human chromosomes 9 and
10. Am J Hum Genet. 1974 Nov;26(6):746–66.
2. Kaiser P. Pericentric inversions. Problems and
significance for clinical genetics. Hum Genet.
1984;68(1):1–47.
3. Muss B, Schwanitz G. Characterization of In-
versions as a Type of Structural Chromosome
Aberration. Int J Hum Genet. 2007;7(2):141–
61.
4. de Grouchy J. The 18p, 18q and 18 syndro-
mes. Birth defects Orig Art Ser. 1969;74–87.
5. Hasi-Zogaj M, Sebold C, Heard P, Carter E,
Soileau B, Hill A, et al. A review of 18p de-
letions. Am J Med Genet Part C Semin Med
Genet. 2015;169C:251–64.
6. Lustosa-Mendes E, dos Santos AP, Viguetti-
Campos NL, Vieira TP, Gil-da-Silva-Lopes VL.
A boy with partial dup(18q)/del(18p) due to
a maternal pericentric inversion: Genotype–
phenotype correlation and risk of recombinant
chromosomes based on systematic review of
the literature. Am J Med Genet A. 2016 Sep
1;n/a-n/a.
7. Hall JG, Allanson JE, Gripp KW, Slavotinek
AM. Handbook of Physical Measurements.
Second. New York: Oxford University Press,
Inc; 2007.
8. Evans HJ. Chromosome anomalies among
livebirths. J Med Genet. 1977 Oct;14(5):309–
12.
9. Anton E, Blanco J, Egozcue J, Vidal F. Sperm
studies in heterozygote inversion carriers: a
review. Cytogenet Genome Res. 2005 Sep
21;111(3–4):297–304.
10. Vianna-Morgante AM, Nozaki MJ, Ortega CC,
Coates V, Yamamura Y. Partial monosomy
and partial trisomy 18 in two offspring of ca-
rrier of pericentric inversion of chromosome
18. J Med Genet. 1976 Oct;13(5):366–70.
11. Turleau C, de Grouchy J. Trisomy 18qter and
trisomy mapping of chromosome 18. Clin Ge-
net. 1977 Dec;12(6):361–71.
12.
Kukolich MK, Althaus BW, Sears JW, Man-
kinen CB, Lewandowski RC. Abnormalities
resulting from a familial pericentric inver-
sion of chromosome 18. Clin Genet. 1978
Aug;14(2):98–104.
13. Andrews T, Gardiner AC, Boon AR. Recom-
binant chromosome 18 in two offspring of a
chromosome 18 inversion heterozygote. Ann
Génétique. 1982;25(3):185–8.
14. Asano T, Ikeuchi T, Shinohara T, Enokido H,
Hashimoto K. Partial 18q trisomy and 18p
monosomy resulting from a maternal peri-
centric inversion, inv(18)(p11.2q21.3). Jin-
rui Idengaku Zasshi Jpn J Hum Genet. 1991
Sep;36(3):257–65.
15. Ayukawa H, Tsukahara M, Fukuda M, Kondoh
O. Recombinant chromosome 18 resulting
from a maternal pericentric inversion. Am J
Med Genet. 1994 May 1;50(4):323–5.
16. Israëls T, Hoovers J, Turpijn HM, Wijburg FA,
Hennekam RC. Partial deletion of 18p and
partial duplication of 18q caused by a pater-
nal pericentric inversion. Clin Genet. 1996
Dec;50(6):520–4.
17. Mejía-Baltodano G, Bobadilla L, Gonzalez
RM, Barros-Núñez P. High recurrence of re-
combinants in a family with pericentric in-
version of chromosome 18. Ann Génétique.
1997;40(3):164–8.
18. Leonard NJ, Tomkins DJ, Demianczuk N. Pre-
natal diagnosis of holoprosencephaly (HPE)
in a fetus with a recombinant (18)dup(18q)
inv(18)(p11.31q11.2)mat. Prenat Diagn. 2000
Dec;20(12):947–9.
19. Roberts D, Sweeney E, Walkinshaw S. Con-
genital cystic adenomatoid malformation of
the lung coexisting with recombinant chro-
mosome 18. A case report. Fetal Diagn Ther.
2001 Apr;16(2):65–7.
20. Vermeulen SJ, Speleman F, Vanransbeeck L,
Verspeet J, Menten B, Verschraegen-Spae
M-R, et al. Familial pericentric inversion of
chromosome 18: behavioral abnormalities in
patients heterozygous for either the dup(18p)/
68