Report of two patients and further characterization of interstitial 9p13 deletion-A rare but recurrent microdeletion syndrome?

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2328-2335

  Niemi, Anna Kaisa ^a   Kwan, Andrea ^a   Hudgins, Louanne ^a   Cherry, Athena M ^a   Manning, Melanie A ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

9p deletion; 9p13 deletion; CGH; Comparative genomic hybridization; Developmental delay; Microdeletion

Indexed keywords

ADOLESCENT; ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CHILD; CHROMOSOME 9P; CHROMOSOME 9P13.1; CHROMOSOME 9P13.3; CHROMOSOME BAND; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; HUMAN; INTERSTITIAL 9P13 DELETION; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPING; MALE; NAIL HYPOPLASIA; PERSONALITY DISORDER; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; RARE DISEASE; SCHOOL CHILD; SHORT STATURE;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; HUMANS; INFANT, NEWBORN; MALE;

EID: 84865552783     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35536     Document Type: Article

References (19)

1. Alfi O, Donnell GN, Crandall BF, Derencsenyi A, Menon R. 1973. Deletion of the short arm of chromosome no. 9 (46, 9p-): A new deletion syndrome. Ann Genet 16: 17-22.
2. Alfi OS, Donnell GN, Allderdice PW, Derencsenyi A. 1976. The 9p- syndrome. Ann Genet 19: 11-16.
3. Bamshad M, Jorde LB, Carey JC. 1996. A revised and extended classification of the distal arthrogryposes. Am J Med Genet 65: 277-281.
4. Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, Nicoletti A, Pittalis MC, Oscarson M, Wedell A. 2009. Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur J Hum Genet 17: 1439-1447.
5. Calvari V, Bertini V, De Grandi A, Peverali G, Zuffardi O, Ferguson-Smith M, Knudtzon J, Camerino G, Borsani G, Guioli S. 2000. A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics 65: 203-212.
6. Eshel G, Lahat E, Reish O, Barr J. 2002. Neurodevelopmental and behavioral abnormalities associated with deletion of chromosome 9p. J Child Neurol 17: 50-51.
7. Flejter WL, Fergestad J, Gorski J, Varvill T, Chandrasekharappa S. 1998. A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779. Am J Hum Genet 63: 794-802.
8. Giltay JC, Gerssen-Schoorl KBJ, van der Wagen A. 1994. A case of de novo interstitial deletion of chromosome 9(p12p13). Clin Genet 46: 271-272.
9. Guioli S, Schmitt K, Critcher R, Bouzyk M, Spurr NK, Ogata T, Hoo JJ, Pinsky L, Gimelli G, Pasztor L, Goodfellow PN. 1998. Molecular analysis of 9p deletions associated with XY sex reversal: Refining the localization of a sex-determining gene to the tip of the chromosome. Am J Hum Genet 63: 905-908.
10. Hall JG, Reed SD, Greene G. 1982. The distal arthrogryposes: Delineation of new entities-Review and nosologic discussion. Am J Med Genet 11: 185-239.
11. Huret JL, Leonard C, Forestier B, Rethoré MO, Lejeune J. 1988. Eleven new cases of del(9p) and features from 80 cases. J Med Genet 25: 741-749.
12. Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang YD, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G, ITALSGEN Consortium, Galassi G, Scholz SW, Taylor JP, Restagno G, Chiò A, Traynor BJ. 2010. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68: 857-864.
13. Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Rimer L, Davis K, Khardori R, Gelber D. 2000. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med 2: 232-241.
14. Kimonis V, Donkervoort S, Watts K. (Updated July 28, 2011). Inclusion body myopathy with paget disease of bone and/or frontotemporal dementia. in genereviews at genetests: Medical genetics information resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org (Accessed December 28, 2011).
15. Manning M, Hudgins L. 2010. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 12: 742-745.
16. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. 2010. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86: 749-764.
17. North K, Ryan M. (Updated March 15, 2012). Nemaline myopathy. In GeneReviews at GeneTests: Medical genetics information resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org (Accessed April 30, 2012).
18. Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM. 2008. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet Part A 146A: 1430-1438.
19. Veitia R, Nunes M, Brauner R, Doco-Fenzy M, Joanny-Flinois O, Jaubert F, Lortat-Jacob S, Fellous M, McElreavey K. 1997. Deletions of distal 9p associated with 46, XY male to female sex reversal: Definition of the breakpoints at 9p23.3-p24.1. Genomics 41: 271-274.