Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature

American Journal of Medical Genetics, Part A

Volumn 152, Issue 9, 2010, Pages 2221-2229

  Kleefstra, Tjitske ^a   De Leeuw, Nicole ^a   Wolf, Roy ^a   Nillesen, Willy M ^a   Schobers, Gaby ^a   Mieloo, Hanneke ^a   Willemsen, Marjolein ^a   Perrotta, Concetta Simona ^b   Poddighe, Pino J ^c   Feenstra, Ilse ^a   Draaisma, Jos ^a   Van Ravenswaaij Arts, Conny M A ^d  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Universities/Hospitals of Catania   (Italy)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

BP3; BP4; BP5; CHRFAM7A; CHRNA7; GABRB3; GABRB5; Marker chromosome 15; MLPA; SMC(15)

Indexed keywords

ADOLESCENT; AGGRESSION; ANXIETY; ARTICLE; ATTENTION DISTURBANCE; AUTISM; CHILD; CHILD BEHAVIOR; CHILD DEVELOPMENT; CHROMOSOME 15; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MOTOR DEVELOPMENT; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; QUESTIONNAIRE; SCHOOL CHILD; SEIZURE; SLEEP DISORDER; SPEECH DEVELOPMENT; SUPERNUMERARY CHROMOSOME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; GENETIC MARKERS; HUMANS; MALE; MENTAL DISORDERS; MENTAL RETARDATION; PHENOTYPE; QUESTIONNAIRES; SEIZURES;

EID: 77956115327     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33529     Document Type: Article

References (44)

1. Achenbach TM. 1991. Manual for the Child Behavior Checklist/4-18 and 1991 profiles. Burlington: University of Vermont, Department of Psychiatry.
2. Achenbach TM. 1992. Manual for the Child Behavior Checklist/2-3 and 1992 profile. Burlington: University of Vermont, Department of Psychiatry.
3. Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD. 1999. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 65:370-386.
4. Battaglia A. 2005. The inv dup(15) or idic(15) syndrome: A clinically recognizable neurogenetic disorder. Brain Dev 27:365-369.
5. Battaglia A. 2008. The inv dup (15) or idic (15) syndrome (tetrasomy 15q). Orph J Rare Dis 3:30. 1-7.
6. Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, Mazza S, Neri G. 1997. The inv dup(15) syndrome: A clinically recognizable syndrome with altered behavior, mental retardation and epilepsy. Neurology 48:1081-1086.
7. Bittel DC, Kibiryeva N, Butler MG. 2007. Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. Genet Test 11:467-475.
8. Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P. 2001. The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. Am J Med Genet 105:675-685. (Pubitemid 33101466)
9. Borgatti R, Piccinelli P, Passoni D, Dalprà L, Miozzo M, Micheli R, Gagliardi C, Balottin U. 2001. Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients. Pediatr Neurol 24:11-116.
10. Buxbaum JD, Silverman JM, Smith CJ, Greenberg DA, Kilifarski M, Reichert J, Cook EH Jr, Fang Y, Song CY, Vitale R. 2002. Association between a GABRB3 polymorphism and autism. Mol Psychiatry 7:311-316.
11. Chifari R, Guerrini R, Pierluigi M, Cavani S, Sgrò V, Elia M, Canger R, Canevini MP. 2002. Mild generalized epilepsy and developmental disorder associated with large inv dup (15). Epilepsia 43:1096-1100.
12. Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH. 1999. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Gen 8:1025-1037. (Pubitemid 29250890)
13. Crolla JA, Harvey JF, Sitch FL, Dennis NR. 1995. Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 95:161-170.
14. Crolla JA, Youings SA, Ennis S, Jacobs PA. 2005. Supernumerary marker chromosomes in man: Parental origin, mosaicism and maternal age revisited. Eur J Hum Genet 13:154-160.
15. Datta AN, Wirrell EC. 2000. Prognosis of seizures occurring in the first year. Pediatr Neurol 22:386-391.
16. Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS. 2006. Clinical findings in 33 patients with large supernumerary marker-(15) chromosomes and 3 patients with triplication of 15q11-15q13. Am J Med Genet Part A 140A:434-441.
17. Eggermann K, Mau UA, Bujdosó G, Koltai E, Engels H, Schubert R, Eggermann T, Raff R, Schwanitz G. 2002. Supernumerary marker chromosomes derived from chromosome 15: Analysis of 32 new cases. Clin Genet 62:89-93.
18. Elmslie FV, Rees M, Williamson MP, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Chadwick D, Richens A, Covanis A, Santos M, Arzimanoglou A, Panayiotopoulos CP, Curtis D, Whitehouse WP, Gardiner RM. 1997. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 6:1329-1334.
19. Feucht M, Fuchs K, Pichlbauer E, Hornik K, Scharfetter J, Goessler R, Füreder T, Cvetkovic N, Sieghart W, Kasper S, Aschauer H. 1999. Possible association between childhood absence epilepsy and the gene encoding GABRB3. Biol Psychiatry 46:997-1002.
20. Forsgren L, Edvinsson SO, Blomquist HK, Heijbel J, Sidenvall R. 1990. Epilepsy in a population of mentally retarded children and adults. Epilepsy Res 6:234-248. (Pubitemid 20255550)
21. Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM. 2009. Chromosome 15q11 13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. J Med Genet 46:86-93.
22. Hou JW, Wang TR. 1998. Unusual features in children with inv dup(15) supernumerary marker: A study of genotype phenotype correlation in Taiwan. Eur J Pediatr 157:122-127.
23. Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH. 1997. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet 99:11-17.
24. Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S. 2006. Supernumerary marker chromosomes detected in 100.000 prenatal diagnoses: Molecular cytogenetic and clinical significance. Prenat Diagn 26:1142-1150.
25. Leonard S, Freedman R. 2006. Genetics of chromosome 15q13-q14 in schizophrenia. Biol Psychiatry 60:115-122.
26. Makoff AJ, Flomen RH. 2007. Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman and inv dup(15) syndromes. Genome Biol 8:R114.
27. Makoff AJ, Flomen RH. 2009.Common inversion polymorphisms and rare microdeletions at 15q13.3. Eur J Hum Genet 17:149-150.
28. Masri A, Badran E, Hamamy H, Assaf A, Al-Qudah AA. 2008. Etiologies, outcomes and risk factors for epilepsy in infants: A case control study. Clin Neurol Neurosurg 110:352-356.
29. Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattei MG. 1996. Clinical heterogeneity in 16 patients with inv dup 15 chromosome: Cytogenetic and molecular studies, search for an imprinting effect. Eur J Hum Genet 4:88-100. (Pubitemid 26146465)
30. Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG. 2007. Recurrent rearrangements in the proximal 15q11-q14 region: A new breakpoint cluster specific to unbalanced translocations. Eur J Hum Genet 15:432-440.
31. Pujana MA, Nadal M, Guitart M, Armengol L, Gratacòs M, Estivill X. 2002. Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur J Hum Genet 10:26-35.
32. Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT. 2005. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics 6:79-84.
33. Rineer S, Finucane B, Simon EW. 1998. Autistic symptoms among children and young adults with isodicentric chromosome 15. Am J Med Genet 81:428-433.
34. Roberts SE, Maggouta F, Thomas NS, Jacobs PA, Crolla JA. 2003. Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity. Am J Hum Genet 73:1061-1072. (Pubitemid 37414219)
35. Robinson WP, Binkert F, Giné R, Vazquez C, Müller W, Rosenkranz W, Schinzel A. 1993. Clinical and molecular analysis of five inv dup (15) patients. Eur J Hum Genet 1:37-50.
36. Rovers MM, Balemans WA, Sanders EA, van der Ent CK, Zielhuis GA, Schilder AG. 2006. Persistence of upper respiratory tract infections in a cohort followed from childhood to adulthood. Fam Pract 23:286-290.
37. Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL. 2005. Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet Part A 139A:106-113.
38. Valente KD, Freitas A, Fridman C, Varela M, Silva AE, Fett AC, Koiffmann CP. 2006. Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis? Clin Neurophys 117:803-809.
39. Verhulst FC. 1996. Handleiding voor de Child Behavior Checklist/4-18. Rotterdam, The Netherlands: Erasmus Medical Centre/Sofia Children's Hospital, Department of Child and Youth Psychiatry.
40. Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S. 1998. Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am J Hum Genet 62:925-936.
41. Wang NJ, Liu D, Parokonny AS, Schanen NC. 2004. High resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization with detection of gene dosage. Am J Hum Genet 75:267-281.
42. Webb T, Hardy CA, King M, Watkiss E, Mitchell C, Cole T. 1998.Aclinical, cytogenetic and molecular study of ten probands with supernumerary inv dup(15) marker chromosomes. Clin Genet 53:34-43. (Pubitemid 28116118)
43. Wolpert CM, Menold MM, Bass MP, Qumsiyeh MB, Donnelly SL, Ravan SA, Vance JM, Gilbert JR, Abramson RK, Wright HH, Cuccaro ML, Pericak-Vance MA. 2000. Three probands with autistic disorder and isodicentric chromosome 15. Am J Med Genet 96:365-372.
44. Xu J, Pato MT, Torre CD, Medeiros H, Carvalho C, Basile VS, Bauer A, Dourado A, Valente J, Soares MJ, Macedo AA, Coelho I, Ferreira CP, Azevedo MH, Macciardi F, Kennedy JL, Pato CN. 2001. Evidence for linkage disequilibrium between the alpha 7-nicotinic receptor gene (CHRNA7) locus and schizophrenia in Azorean families. Am J Med Genet 105:669-674. (Pubitemid 33101465)