Pediatric Neurology
Volume 36, Issue 4 , Pages 258-260 , April 2007

Partial Deletion of LIS1: A Pitfall in Molecular Diagnosis of Miller-Dieker Syndrome

Received 7 August 2006 ,Accepted 27 November 2006.

References 

  1. Miller JQ. Lissencephaly in two siblings. Neurology. 1963;13:841–850
  2. Dieker H, Edwards RH, ZuRhein G, Chou SM, Hartman HA, Opitz JM. The lissencephaly syndrome. Birth Defects Orig Artic Ser. 1969;5:53–64
  3. Jones KL, Gilbert EF, Kaveggia EG, Opitz JM. The Miller-Dieker syndrome. Pediatrics. 1980;66:277–281
  4. Reiner O, Carrozzo R, Shen Y, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 1993;364:717–721
  5. Cardoso C, Leventer RJ, Ward HL, et al. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003;72:918–930
  6. Ashwal S. Congenital structural defects. In:  Swaiman K,  Ashwal S,  Ferriero DM editor. Pediatric neurology. 4th ed.. Philadelphia: Mosby Elsevier; 2006;p. 413–417
  7. Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet. 1991;49:707–714
  8. Dobyns WB, Truwit CL, Ross ME, et al. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 1999;53:270–277

PII: S0887-8994(06)00718-1

doi: 10.1016/j.pediatrneurol.2006.11.015

Pediatric Neurology
Volume 36, Issue 4 , Pages 258-260 , April 2007

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