Skip to main content
Have a personal or library account? Click to login
DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA Cover

DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA

Open Access
|Mar 2014

References

  1. 1. de Grouchy J, Lamy M, Theffry S, Arthuis M, Salmon C. Dysmorphic complexe avec oligophrenie: deletion des bras courts d’un chromosome 18. CR Acad Sci. 1963; 256: 1028-1029.
  2. 2. Turleau C. Monosomy 18p. Orphanet J Rare Dis. 2008; 3: 4.
  3. 3. Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Humans, 2nd ed. Berlin: Walter de Gruyter; 2001.
  4. 4. Wester U, Bondeson ML, Edeby C, Anneren G. Clinical and molecular characterization of indi viduals with 18p deletion: a genotype-phenotype correlation. Am J Med Genet A. 2006; 140(11): 1164-1171.
  5. 5. Sumner AT. A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res. 1972; 75(1): 304-306.
  6. 6. Lemyre E, der Kaloustian VM, Duncan AM. Stable non-Robertsonian dicentric chromosomes: four new cases and a review. J Med Genet. 2001; 38(1): 76-79.
  7. 7. Marical H, Le Bris MJ, Douet-Guilbert N, Parent P, Descourt JP, Morel F, et al. 18p Trisomy: a case of direct 18p duplication characterized by molecular cytogenetic analysis. Am J Med Genet A. 2007; 143A(18): 2192-2195.
  8. 8. Tsukahara M, Imaizumi K, Fujita K, Tateishi H, Uchida M. Familial Del(18p) syndrome. Am J Med Genet. 2001; 99(1): 67-69.
  9. 9. Digilio MC, Marino B, Giannotti A, Di Donato R, Dallapiccola B. Heterotaxy with left atrial isomerism in a patient with deletion 18p. Am J Med Genet. 2000; 94(3): 198-200.
  10. 10. Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, et al. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet. 2010; 47(3): 195-203.
  11. 11. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, et al.; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008; 358(7): 667-675.
  12. 12. Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, et al. Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One. 2009; 4(2): e4582.
  13. 13. McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet. 2009; 41(11): 1223-1227.
  14. 14. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010; 47(5): 332-341.
  15. 15. Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 2011; 478(7367): 97-102.
  16. 16. Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med. 2013; 15(6): 478-481.
  17. 17. Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Cox S, et al. Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. Eur J Hum Genet. 2011; 19(2): 152-156.
  18. 18. Portnoi MF, Gruchy N, Marlin S, Finkel L, Denoyelle F, Dubourg C, et al. Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clin Dysmorphol. 2007; 16(4): 247-252.
  19. 19. Brenk CH, Prott EC, Trost D, Hoischen A, Walldorf C, Radlwimmer B, et al. Towards mapping phenotypical traits in 18p-syndrome by arraybased comparative genomic hybridisation and fluorescent in situ hybridisation. Eur J Hum Genet. 2007; 15(1): 35-44.
  20. 20. Ming JE, Muenke M. Multiple hits during early embryonic development: digenic diseases and holopros-encephaly. Am J Hum Genet. 2002; 71(5): 1017-1032.
  21. 21. Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, et al. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holopros-encephaly: an updated map of candidate loci. Hum Mutat. 2009; 30(8): 1175-1182.
DOI: https://doi.org/10.2478/bjmg-2013-0034 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Language: English
Page range: 67 - 72
Published on: Mar 11, 2014
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services

© 2014 A. Sireteanu, M. Voloşciuc, M. Grămescu, Ev. Gorduza, C. Vulpoi, I. Frunză, C. Rusu, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.