This is a preview of subscription content, log in via an institution to check access.
References
Boghosian-Sell L., Mewar R., Harrison W., Shapiro R. M., Zackai E. H., Carey J. et al. 1994 Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. Am. J. Hum. Genet. 55, 476–483.
Cody J. D., Heard P. L., Crandall A. C., Carter E. M., Li J., Hardies L. J. et al. 2009 Narrowing critical regions and determining penetrance for selected 18q−phenotypes. Am. J. Med. Genet. A 149A, 1421–1430.
Courtens W., Grossman D., Van Roy N., Messiaen L., Vamos E., Toppet V., et al. 1998 Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion. Hum. Genet. 103, 497–505.
Debacker K., Winnepenninckx B., Ben-Porat N., FitzPatrick D., Van Luijk R., Scheers S., et al. 2007 FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage. J. Med. Genet. 44, 347–352.
Feenstra I., Vissers L. E., Orsel M., van Kessel A. G., Brunner H. G., Veltman J. A. et al. 2007 Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am. J. Med. Genet. A 143A, 1858–1867.
Heard P. L., Carter E. M., Crandall A. C., Sebold C., Hale D. E., and Cody J. D. 2009 High resolution genomic analysis of 18q − using oligo-microarray comparative genomic hybridization (aCGH). Am. J. Med. Genet. A 149A, 1431–1437.
Henson K. E., Hines K. A., Weaver D. D., Torres W. M., Verbrugge J., Stone K., et al. 2012 Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features. Am. J. Med. Genet. A 158A, 1788–1792.
Hulick P. J., Noonan K. M., Kulkarni S., Donovan D. J., Listewnik M., Ihm C., et al. 2009 Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4- month-old female. Cytogenet. Genome Res. 126, 305–312.
Lee N. C., Chang S. P., Chang C. S., Chen C. H., Lee D. J., Lin C. C., et al. 2009 Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding. Prenat. Diagn 29, 1058–1060.
Neira V. A., Córdova-Fletes C., Grondin Y., Ramirez-Velazco A., Figuera L. E., Ortíz-López R. et al. 2012 Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion. Am. J. Med. Genet. A 158A, 1498–1502.
Nguyen-Minh S., Drossel K., Horn D., Rost I., Spors B., and Kaindl A. M. 2013 Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy. Gene 523, 92–98.
Quiroga R., Monfort S., Oltra S., Ferrer-Bolufer I., Roselló M., Mayo S., et al. 2011 Partial duplication of 18q including a distal critical region for Edwards syndrome in a patient with normal phenotype and oligoasthenospermia: case report. Cytogenet. Genome Res. 133, 78–83.
Rowe L. R., Lee J. Y., Rector L., Kaminsky E. B., Brothman A. R., Martin C. L., et al. 2009 U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements. J. Med. Genet. 46, 694–702.
Turleau C. and de Grouchy J. 1977 Trisomy 18qter and trisomy mapping of chromosome 18. Clin. Genet. 12, 361– 371.
Zhang J., Zuo T., and Peterson T. 2013 Generation of tandem direct duplications by reversed-ends transposition of maize ac elements. PLoS Genet 9 8, e1003691.
Zollino M., Wright T. J., Di Stefano C., Tosolini A., and Battaglia A. 1999 “Tandem” duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. Am. J. Med. Genet. 82, 371–375.
Zuffardi O., Bonaglia M., Ciccone R. and Giorda R. 2009 Inverted duplications deletions: underdiagnosed rearrangements? Clin. Genet. 75, 505–513.
Acknowledgements
We thank the patient’s parents for their support to carry out this study and L. Martínez-Jacobo and L.B. Zazueta-Morales for their technical support. This study was partially supported by UANL-PROMEP (no. 103.5/11/4330), UANL-PAICYT (SA609-10; SA324-10) and CONACYT (no. 000000000204423) for C. Córdova-Fletes. A. Ramírez- Velazco was partially supported by a CONACYT scholarship.
Author information
Authors and Affiliations
Corresponding author
Additional information
Córdova-Fletes C., Sáinz-González E., Avendaño-Gálvez R. I., Ramírez-Velazco A., Rivera H., Ortiz-López R., Arámbula-Meraz E. and Picos-Cárdenas V. 2014 De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes. J. Genet. 93, xx–xx
Rights and permissions
About this article
Cite this article
CÓRDOVA-FLETES, C., SÁINZ-GONZÁLEZ, E., AVENDAÑO-GÁLVEZ, R.I. et al. De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes. J Genet 93, 869–873 (2014). https://doi.org/10.1007/s12041-014-0459-8
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12041-014-0459-8