A NOVEL DE NOVO PARACENTRIC INVERSION [inv(20)(q13.1q13.3)] ACCOMPANIED BY AN 11q14.3-q21 MICRODELETION IN A PEDIATRIC PATIENT WITH AN INTELLECTUAL DISABILITY
Zachaki S, Kouvidi E, Mitrakos A, Lazaros L, Pantou A, Mavrou A, Tzetis M, Manola KN
*Corresponding Author: Dr. Sophia Zachaki, Genesis Genoma Lab, Kifisias Avenue 302, Chalandri, 15232, Athens, Greece. Tel.: +30-210-6803130. Fax: +30-210-6894778. E-mail: szachaki@genlab.gr
page: 63

REFERENCES

1. Fryns JP, van den Berghe H. Paracentric inversion in man: Personal experience and review of the literature. Hum Genet. 1980; 54(3): 413-416. 2. Hook EB, Schreinemachers DM, Willey AM, Cross PK. Inherited structural cytogenetic abnormalities detected incidentally in fetuses diagnosed prenatally: Frequency, parental-age associations, sex-ratio trends and comparisons with rates of mutants. Am J Hum Genet. 1984; 36(2): 422-443. 3. Madan K. Paracentric inversions: A review. Hum Genet. 1995; 96(5): 503-515. 4. Greger V, Knoll JH, Wagstaff J,Woolf E, Lieske P, Glatt H, et al. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3. Am J Med Genet. 1997; 60(3): 574-580. 5. Saito-Ohara F, Fukuda Y, Ito M, Agarwala KL, Hayashi M, Matsuo M, et al. The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. Am J Hum Genet. 2002; 71(3): 637-645. 6. McGowan-Jordan J, Simons A, Schmid M, Editors. ISCN 2016: An International System for Human Cytogenomic Nomenclature, 2016 ed. Basel, Switzerland: S. Karger AG, 2016. 7. Vialard F, Delanete A, Clement P, Simon-Bouy B, Aubriot FX, Selva J. Sperm chromosome analysis in two cases of paracentric inversion. Fertil Steril. 2007; 87(2): 418.e1-e5. 8. Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, et al. Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. Am J Med Genet. 2002; 113(4): 167-172. 9. Fraisse J, Bertheas MF, Frere F, Lauras B, Rolland MO, Brizard CP. Partial monosomy 20q: A new syndrome. Regional assignment of the adenosine deaminase (ADA) locus on 20q132. Ann Genet. 1981; 24(22): 216-219. 10. Genevieve D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, et al. Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. Eur J Hum Genet. 2005; 13(9): 1033-1039. 11. Petersen MB, Tranebjaerg L, Tommerup N, Nygaard P, Edwards H. New assignment of the adenosine deaminase gene locus to chromosome20q13.11 by study of a patient with interstitial deletion 20q. J Med Genet. 1987; 24(2): 93-96. 12. Shabtai F, Ben-Sasson E, Arieli S, Grinblat J. Chromosome 20 long arm deletion in an elderly malformed man. J Med Genet. 1993; 30(2): 171-173. 13. Lin Y, Chen C, Chen T, Hsu C, Chou S, Chien S. Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction. Taiwan J Obstet Gynecol. 2011; 50(4): 528-530. 14. Zankl A, Duncan E, Leo P, Clark G, Glazov E, Addor M, et al. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. Am J Hum Genet. 2012; 90(3): 494-501. 15. Park J, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, et al. Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defect. Am J Hum Genet. 2016; 98(6): 1220-1227. 16. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, et al. The 11q terminal deletion disorder: A prospective study of 110 cases. Am J Med Genet A. 2004; 129A(1): 51-61. 17. Liu N, Yan J, Chen X, Song J, Wang B, Yao Y. Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3→q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization. Mol Cytogenet. 2014; 25(7): 62. 18. Papoulidis I, Paspaliaris V, Siomou E, Orru S, Murru R, Sifakis S, et al. Interstitial deletion at 11q14.2- 11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male. Mol Cytogenet. 2015; 8: 71-78. 19. Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, et al. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Am J Hum Genet. 2010; 87(5): 667-670. 20. Hirabayashi S, Saitsu H, Matsumoto N. Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17). Brain Dev. 2016; 38(1): 118-123.



Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Accepted articles
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006