Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 475-481

  Mosca, A L ^a   Callier, P ^a   Faivre, L ^a   Marle, N ^a   Mejean, N ^a   Thauvin Robinet, C ^a   Masurel Paulet, A ^a   Madinier, N ^a   Durand, C ^a   Couillaud, G ^a   Ragot, S ^a   Huet, F ^a   Teyssier, J R ^a   Mugneret, F ^a  

^a HÔPITAL DU BOCAGE   (France)

Author keywords

22q11.2 microduplication; CGH array; Inv dup del (9p); Polymicrogyria

Indexed keywords

VALPROIC ACID;

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHILD; CHROMOSOME 22Q; CHROMOSOME 9P; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINEOUS MARRIAGE; CYTOGENETICS; ECHOGRAPHY; EPILEPSY; EYEBROW; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GROWTH RETARDATION; HUMAN; MENTAL DEFICIENCY; MICROGYRIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; SYNOPHRYS;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME PAINTING; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 9; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION; KARYOTYPING; MALFORMATIONS OF CORTICAL DEVELOPMENT; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHYSICAL CHROMOSOME MAPPING; POLYMERASE CHAIN REACTION;

BACTERIA (MICROORGANISMS);

EID: 61749093596     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32665     Document Type: Article

References (40)

1. Alberti A, Romano C, Falco M, Cali? F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M. 2007. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clin Genet 71:177-182.
2. Alkan M, Ramelli GP, Hirsiger H, Keser I, Remonda L, Bühler EM, Moser H. 2002. Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. Genet Couns 13:151-156.
3. Bearden CE, van Erp TG, Dutton RA, Lee AD, Simon TJ, Cannon TD, Emanuel BS, McDonald-McGinn D, Zackai EH, Thompson PM. 2008. Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cereb Cortex [Epub ahead of print].
4. Chen CP, Chang TY, Shih JC, Lin SP, Lin CJ, Wang W, Lee CC, Town DD, Pan CW, Tzen CY. 2002. Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion. Prenat Diagn 22:1063-1066.
5. Curry CJ, Triesman T, Roeder E, Drumheller T. 2000. Hydrocephalus, microcephaly, and neuronal migrational abnormalties: A 15-year mystery explained by a 6q deletion. Proc Greenwood Genet Center 19:78-79.
6. D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Palmini A, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Dubeau F, Andermann F, Dobyns WB, Andermann E. 2002. Subcortical band heterotopia (SBH) in males: Clinical, imaging and genetic findings in comparison with females. Brain 125:2507-2522.
7. Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. 2008. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet Part A 146A:1637-1654.
8. Dupuy O, Husson I, Wirth J, Wiss J, Nessmann C, Evrard P, Eydoux P. 1999. Pachygyria and polymicrogyria, cranio-facial dysmorphysm and atrio-ventricular canal resulting from a duplication of the proximal region of chromosome 11q(11q11-11q12) [abstract]. Am J Hum Genet 64:A161.
9. Eash D, Waggoner D, Chung J, Stevenson D, Martin CL. 2005. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin Genet 67:396-403.
10. Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, McDonald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM. 2003. Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 73:1027-1040.
11. Federico A, Tomasetti P, Zollino M, Diomedi M, Dotti MT, De Stefano N, Gualdi GF, Neri G, Gigli GL. 1999. Association of trisomy 9p and band heterotopia. Neurology 53:430-432.
12. Guillaud-Bataille M, Valent A, Soularue P, Perot C, Inda MM, Receveur A, Smaïli S, Roest Crollius H, Bénard J, Bernheim A, Gidrol X, Danglot G. 2004. Detecting single DNA copy number variations in complex genomes using one nanogram of starting DNA and BAC-array CGH. Nucleic Acids Res 32:e1.
13. Jansen A, Andermann E. 2005. Genetics of the polymicrogyria syndromes. J Med Genet 42:369-378.
14. Ke N, Ma H, Diedrich G, Chionis J, Liu G, Yu DH, Wong-Staal F, Li QX. 2008. Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP). Biochem Biophys Res Commun 366:314-320.
15. Kogan JM, Egelhoff JC, Saal HM. 2008. Interstitial deletion of 13q associated with polymicrogyria. Am J Med Genet Part A 146A:910-916.
16. Krepischi-Santos AC, Vianna-Morgante AM. 2003. Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9. Am J Med Genet Part A 117A(1):41-46.
17. de La Rochebrochard C, Joly-Hélas G, Goldenberg A, Durand I, Laquerrière A, Ickowicz V, Saugier-Veber P, Eurin D, Moirot H, Diguet A, de Kergal F, Tiercin C, Mace B, Marpeau L, Frebourg T. 2006. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet Part A 140A:1608-1613.
18. Metzke-Heidemann S, Kuhling-von Kaisenberg H, Caliebe A, Janssen D, Jonat W, Grote W, von Kaisenberg CS. 2004. Phenotypical variation in cousins with the identical partial trisomy 9 (pter-q22.2) and 7 (q35-qter) at 16 and 23 weeks gestation. Am J Med Genet Part A 126A:197-203.
19. Møller RS, Hansen CP, Jackson GD, Ullmann R, Ropers HH, Tommerup N, Tümer Z. 2007. Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe. Clin Genet 72:593-598.
20. Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. 2000. Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases. J Clin Endocrinol Metab 85:3094-3100.
21. Nowaczyk MJ, Teshima IE, Siegel-Bartelt J, Clarke JT. 1997. Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions. Am J Med Genet 69:400-405.
22. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. 2008. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10:267-277.
23. Õunap K, Uibo O, Zordania R, Kiho L, Ilus T, Oiglane-Shlik E, Bartsch O. 2004. Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. Am J Med Genet Part A 130A:415-423.
24. Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, Doan B, Hong SE, Shugart YY, Walsh CA. 2002. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet 70:1028-1033.
25. Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA. 2004. G protein-coupled receptor-dependent development of human frontal cortex. Science 303:2033-2036.
26. Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S. 2005. 22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. Am J Med Genet Part A 137A:47-51.
27. Rajcan-Separovic E, Harvard C, Liu X, McGillivray B, Hall JG, Qiao Y, Hurlburt J, Hildebrand J, Mickelson EC, Holden JJ, Lewis ME. 2007. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. J Med Genet 44:269-276.
28. Ramer JC, Mowrey PN, Robins DB, Ligato S, Towfighi J, Ladda RL. 1990. Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: Review of brain, cardiac, and limb malformations. Am J Med Genet Part A 37:392-400.
29. Ribeiro Mdo C, Gama de Sousa S, Freitas MM, Carrilho I, Fernandes I. 2007. Bilateral perisylvian polymicrogyria and chromosome 1 anomaly. Pediatr Neurol 36:418-420.
30. Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. 2006. Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation. Am J Med Genet Part A 140A:2416-2425.
31. Salamanca-Gonez F, Nava S, Armendares S. 1975. Ring chromosome 6 in a malformed boy. Clin Genet 8:370-375.
32. Shapira SK, Heilstedt HA, Starkey DE, Burgess DL, Chedrawi AK, Anderson AE, Tharp B, Carrol CL, Armstrong D, Wu Y-Q, Noebels JL, Shaffer LG. 1999. Clinical and pathological characterization of epilepsy in patients with monosomy 1p36 and the search for candidate genes [Abstract 564]. Am J Hum Genet 65:A107.
33. Temtamy SA, Kamel AK, Ismail S, Helmy NA, Aglan MS, El Gammal M, El Ruby M, Mohamed AM. 2007. Phenotypic and cytogenetic spectrum of 9p trisomy. Genet Couns 18:29-48.
34. Toro R, Burnod Y. 2005. A morphogenetic model for the development of cortical convolutions. Cereb Cortex 15:1900-1913.
35. Tsezou A, Kitsiou S, Galla A, Petersen MB, Karadima G, Syrrou M, Sahlèn S, Blennow E. 2000. Molecular cytogenetic characterization and origin of two de novo duplication 9p cases. Am J Med Genet Part A 91:102-106.
36. Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM Jr, Winter RM, Leventer RJ, Dobyns WB. 2002. A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet 70:1003-1008.
37. Yao G, Chen XN, Flores-Sarnat L, Barlow GM, Palka G, Moeschler JB, McGillivray B, Morse RP, Korenberg JR. 2006. Deletion of chromosome 21 disturbs human brain morphogenesis. Genet Med 8:1-7.
38. Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, McDermid HE. 2005. Microduplication and triplication of 22q11.2: A highly variable syndrome. Am J Hum Genet 76:865-876.
39. Yu S, Cox K, Friend K, Smith S, Buchheim R, Bain S, Liebelt J, Thompson E, Bratkovic D. 2008. Familial 22q11.2 duplication: A three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. Clin Genet 73:160-164.
40. Zollino M, Colosimo C, Zuffardi O, Rossi E, Tosolini A, Walsh CA, Neri G. 2003. Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. Am J Med Genet Part A 117A:65-71.