Pediatric Neurology
Volume 34, Issue 3 , Pages 186-193 , March 2006

Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

  • Maria Francesca Bedeschi, MD

      Affiliations

    • IRCCS “E Medea”, Bosisio Parini Lecco, Italy
    • Medical Genetic Unit Istituti Clinici di Perfezionamento, Milano, Italy
  • ,
  • Maria Clara Bonaglia, PhD
  • ,
  • Rita Grasso, MD

      Affiliations

    • IRCCS “E Medea”, Bosisio Parini Lecco, Italy
  • ,
  • Alda Pellegri, MD

      Affiliations

    • IRCCS “E Medea”, Conegliano Veneto Treviso, Italy
  • ,
  • Rosaria Rita Garghentino, MD

      Affiliations

    • IRCCS “E Medea”, Bosisio Parini Lecco, Italy
  • ,
  • Maria Amalia Battaglia, MD

      Affiliations

    • IRCCS “E Medea”, Conegliano Veneto Treviso, Italy
  • ,
  • Anna Maria Panarisi, MD

      Affiliations

    • IRCCS “E Medea”, Bosisio Parini Lecco, Italy
  • ,
  • Maja Di Rocco, MD

      Affiliations

    • IRCCS “E Medea”, Bosisio Parini Lecco, Italy
    • IRCCS “G. Gaslini”, Genova, Italy
  • ,
  • Umberto Balottin, MD

      Affiliations

    • Child Neuropsychiatry Unit, University of Insubria, Macchi Foundation Hospital, Varese, Italy
    • Department of Child Neuropsychiatry, University of Pavia, IRCCS Fondazione C. Mondino, Pavia, Italy
  • ,
  • Nereo Bresolin, MD

      Affiliations

    • IRCCS “E Medea”, Bosisio Parini Lecco, Italy
    • IRCCS Ospedale Maggiore Policlinico, “Centro Dino Ferrari”, Department of Neurology, University of Milano, Italy
  • ,
  • Maria Teresa Bassi, PhD

      Affiliations

    • IRCCS “E Medea”, Bosisio Parini Lecco, Italy
  • ,
  • Renato Borgatti, MD

      Affiliations

    • IRCCS “E Medea”, Bosisio Parini Lecco, Italy
    • Corresponding Author InformationCommunications should be addressed to: Dr. Borgatti; Divisione di Neuroriabilitazione 1; IRCCS “Eugenio Medea”; La Nostra Famiglia; Via Don Luigi Monza, 20; 23842 Bosisio Parini (Lecco), Italy

Received 26 January 2005 ,Accepted 2 August 2005.

References 

  1. Dobyns WB . Absence makes the search grow longer . Am J Hum Genet . 1996;58:7–16
  2. Andermann E . Agenesis of the corpus callosum . In:  Vinken PJ ,  Bruyn GW editor. Handbook of clinical neurology . Vol. 42: Amsterdam: Elsevier/North-Holland Biomedical Press; 1981;p. 6–9
  3. Grogono JL . Children with agenesis of the corpus callosum . Dev Med Child Neurol . 1968;10:613–616
  4. Jeret JS , Serur D , Wisniewski E , Fisch C . Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography . Pediatr Neurosci . 1986;12:101–103
  5. Dutrillaux B , Viegas-Pequignot E . High resolution R- and G-banding on the same preparation . Hum Genet . 1981;57:93–95
  6. Knight SJ , Horsley SW , Regan R , et al.   Developmental and clinical application of an innovative fluorescent in situ hybridization technique which detects submicroscopic rearrangements involving telomere . Eur J Hum Genet . 1997;5:1–8
  7. Myrianthopoulos NC . Epidemiology of CNS malformations . In:  Myrianthopoulos NC editors. Handbook of clinical neurology . Vol. 6: Amsterdam: Elsevier; 1987;p. 49–70 Malformations.
  8. Taylor M , David AS . Agenesis of the corpus callosum (A United Kingdom series of 56 cases) . J Neurol Neurosurg Psychiatry . 1998;64:131–134
  9. Serur D . Agenesis of the corpus callosum (Clinical, neuroradiological and cytogenetic studies) . Neuropediatrics . 1988;19:87–91
  10. Goodyear PWA , Bannister CM , Russell S , Rimmer S . Outcome in prenatally diagnosed fetal agenesis of the corpus callosum . Fetal Diagn Ther . 2001;16:139–145
  11. Jeret JS , Serur D , Wisniewski E , Lubin RA . Clinicopathological findings associated with Agenesis of the Corpus Callosum . Brain Dev . 1987;9:255–264
  12. Courtens W , Vamos E , Christophe C , Schinzel A . Acrocallosal syndrome in an Algerian boy born to consanguineous parents (Review of the literature and further delineation of the syndrome) . Am J Med Genet . 1997;69:17–22
  13. Menezes AV , MacGregor DL , Buncic JR . Aicardi syndrome (Natural history and possible predictors of severity) . Pediatr Neurol . 1994;11:313–318
  14. Schaefer GB , Bodensteiner JB , Buehler BA , Lin A , Cole TRP . The neuroimaging findings in Sotos syndrome . Am J Med Genet . 1997;68:462–465
  15. Zampino G , Di Rocco C , Butera G , et al.   Opitz C trigonocephaly syndrome and midline brain anomalies . Am J Med Genet . 1998;73:484–488
  16. Aleksic S , Budzilovich G , Greco MA , et al.   Intracranial lipomas, hydrocephalus and other CNS anomalies in oculo-auriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome) . Child’s Brain . 1984;11:285–297
  17. Barkovich AJ , Fram EK , Norman D . Septo-optic dysplasia (MR imaging) . Radiology . 1989;171:189–192
  18. Chu DA , Finley SC , Young DW , Proud VK . CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome (Report and review) . Am J Med Genet . 1997;72:205–210
  19. Capovilla G , Lorenzetti ME , Montagnini A , et al.   Seckel’s syndrome and malformations of cortical development (Report of three new cases and review of the literature) . J Child Neurol . 2001;16:382–386
  20. Devriedt K , Schoubroeck DV , Eyskens B , Gewillig M , Vandenberbergh K , Fryns JP . Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect . Prenatal Diagnosis . 1998;18:65–67
  21. Floridia G , Piantanida M , Minelli A , et al.   The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications . Am J Hum Genet . 1996;58:785–796
  22. Guo WJ , Callif-Dalley F , Zapata C , Miller ME . Clinical and cytogenetic findings in seven cases of inverted duplications of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization . Am J Med Genet . 1995;58:230–236
  23. Mitchell JJ , Vekemans M , Luscombe S , et al.   U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8 . Am J Med Genet . 1994;49:384–387
  24. Murayama K , Greenwood RS , Rao KW , Aylsworth AS . Neurological aspects of del(1q)syndrome . Am J Med Genet . 1991;40:488–492
  25. Gentile M , Di Carlo A , Volpe P , et al.   FISH and cytogenetic characterization of a terminal chromosome 1q deletion (Clinical case report and phenotypic implications) . Am J Med Genet . 2003;117A:251–254
  26. Antich J , Carbonell X , Mas J , Clusellas N . De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype (46,XY,del(2)(q12q14)) . Acta Paediatr Scand . 1983;72:631–633
  27. Frydman M , Steinberger J , Shabtai F , Katznelson MB-N , Varsano I . Interstitial deletion 2q14q21 . Am J Med Genet . 1989;34:476–479
  28. McConnell TS , Kornfeld M , Mc Clellan G , Aase J . Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18. Case report with autopsy . Hum Pathol . 1980;11:202–205
  29. Ramer JC , Mowrey PN , Robin DB , Ligato S , Towfighi J , Ladda RL . 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 . 1990;37:392–400
  30. Brimblecombe FSW , Lewis FJ , Vowels M . Complete 5p trisomy (1 case and 19 translocation carriers in 6 generations) . J Med Genet . 1977;14:271–275
  31. Kleczkowska A , Fryns JP , Moerman P , Vanderbenghe K , Van Den Berghe H . Trisomy of the short arm of chromosome 5 (Autopsy data in a malformed newborn with inv dup (5)(p13.1-p15.3)) . Clin Genet . 1987;32:49–56
  32. Duca D , Bene M , Ioan D , Maximilian C . Familial partial trisomy (6q25-qter) . J Genet Hum . 1980;28:31–37
  33. Katafuchi Y , Fukuda T , Maruoka T , Tokunaga Y , Yamashita Y , Matsuishi T . Partial trisomy 6p with agenesis of the corpus callosum and choanal atresia . J Child Neurol . 1992;7:114–116
  34. Cottrall K , Magrath I , Bootes JA , et al.   A case of proximal 14 trisomy with pathological findings . J Ment Defic Res . 1981;25:1–6
  35. Autio S , Pihko H , Tengstrom C . Clinical features in a de novo interstitial deletion 15q13 to 15q . Clin Genet . 1988;34:293–298
  36. Courtens W , Petersen MB , Noel JC , et al.   Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies . Am J Med Genet . 1994;51:260–265
  37. Fryns JP , D’Hondt F , Goddeeris P , von den Berghe H . Full monosomy 21 (A clinically recognizable syndrome?) . Hum Genet . 1977;37:155–159
  38. Pettenati MJ , Mirkin LD , Goldstein DJ . Diploid-triploid mosaicism (Report of necropsy findings) . Am J Med Genet . 1986;24:23–28
  39. Kozma C , Meck JM . Familial 10p trisomy resulting from a maternal pericentric inversion . Am J Med Genet . 1994;49:281–287
  40. Anderlid BM , Schoumans J , Anneren G , et al.   Subtelomeric rearrangements detected in patients with idiopathic mental retardation . Am J Med Genet . 2002;107:275–284
  41. Flint J , Wilkie AOM , Buckle VJ , Winter RM , Holland AJ , McDermid HE . The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation . Nat Genet . 1995;9:132–135
  42. Knight SJ , Regan R , Nicod A , et al.   Subtle chromosomal rearrangements in children with unexplained mental retardation . Lancet . 1999;354:1676–1681
  43. Rossi E , Piccini F , Zollino M , et al.   Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations . J Med Genet . 2001;38:417–420
  44. Van Karnebeek CD , Koevoets C , Sluijter S , et al.   Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology (The Amsterdam experience) . J Med Genet . 2002;39:546–553

PII: S0887-8994(05)00467-4

doi: 10.1016/j.pediatrneurol.2005.08.008

Pediatric Neurology
Volume 34, Issue 3 , Pages 186-193 , March 2006