Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat

American Journal of Medical Genetics

Volumn 124 A, Issue 3, 2004, Pages 292-295

  Thomas, Mary Ann ^a,b   Duncan, Alessandra M V ^a,b   Bardin, Claudette ^a   Der Kaloustian, Vazken M ^a,b  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

Lissencephaly; Miller Dieker syndrome; Partial monosomy 17p; Partial trisomy 20p

Indexed keywords

AGYRIA; ARTICLE; CASE REPORT; CHROMOSOME 17P; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE LOCUS; GENE SEQUENCE; HUMAN; INHERITANCE; LIS1 GENE; MALE; MILLER DIEKER SYNDROME; NEWBORN; PARTIAL MONOSOMY; PARTIAL TRISOMY; PHENOTYPE; PRIORITY JOURNAL;

ACRONICTA LEPORINA;

EID: 0347753511     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20373     Document Type: Article

References (24)

1. Alvarado M, Bass H, Caldwell S, Jamehdor M, Miller A, Jacob P. 1993. Miller-Dieker syndrome: Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring. Am J Dis Child 147:1291-1294.
2. Berry R, Wilson H, Robinson J, Sandlin C, Tyson W, Campbell J, Porreco R, Manchester D. 1989. Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1). Am J Med Genet 34:358-365.
3. Bown N, Cross I, Davison E, Burn J. 1986. Partial trisomy 20p resulting from a recombination of a familial pericentric inversion. Hum Genet 74:417-419.
4. Cordosa C, Leventer R, Matsumoto N, Kuc J, Ramocki M, Mewborn S, Dudlicek L, May L, Mills P, Das S, Pilz D, Dobyns W, Ledbetter D. 2000. The location and type of mutation predict the malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet 9(20):3019-3028.
5. Crowe C, Dickerman L, Gustashaw K, Golden W. 1988. A familial translocation t(8;17) associated with neurofibromatosis, lissencephaly, and severe mental retardation (abstract). Am J Hum Genet 43:A45.
6. Dieker H, Edwards RH, ZuRhein G, Chou SM, Hartman HA, Opitz JM. 1969. The lissencephaly syndrome. Birth Defects Orig Artic Ser 5(2):53-64.
7. Dobyns W, Stratton R, Parke J, Greenberg F, Nussbaum R, Ledbetter D. 1983. Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J Pediatr 102:552-558.
8. Dobyns W, Curry C, Hoyme E, Turlington L, Ledbetter D. 1991. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet 48:584-594.
9. Funderbunk S, Sparkes R, Sparkes M. 1983. Trisomy 20p due to a paternal reciprocal translocation. Ann Génét 26(2):94-97.
10. Garcia C, Dunn D, Trevor R. 1978. The lissencephaly (agyria) syndrome in siblings: Computerized tomographic and neuropathologic findings. Arch Neurol 35:608-611.
11. Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Del Porto G. 1992. 20p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome. Clin Genet 41:285-289.
12. Greenberg F, Courtney K, Wessels R, Huhta J, Carpenter R, Rich D, Ledbetter D. 1988. Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly. Am J Med Genet 31:1-4.
13. Kohler A, Hain J, Muller U. 1994. Familial half cryptic translocation t(9;17). J Med Genet 31:712-714.
14. Kuwano A, Ledbetter S, Dobyns W, Emanuel B, Ledbetter D. 1991. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet 49:707-714.
15. LeChien K, McPherson E, Estop A. 1994. Duplication 20p identified via fluorescent in situ hybridization. Am J Med Genet 50:187-189.
16. Masuno M, Imaizumi K, Nakamura M, Matsui K, Goto A, Kuroki Y. 1995. Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3). Am J Med Genet 59:441-443.
17. Miller JQ. 1963. Lissencephaly in 2 siblings. Neurology 13:841-850.
18. Mutchinick O, Shaffer L, Kashork C, Cervantes E. 1999. Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci. Am J Med Genet 85:99-104.
19. Oppenheimer S, Dignan P, Soukup S. 2000. Partial trisomy 20p: familial occurrence. Am J Med Genet 95:316-319.
20. Rothlisberger B, Kotzot D, Gnehm H, Schinzel A. 1999. "Essentially pure" partial trisomy (6)(p23→pter) in two brothers due to maternal t(6;17)(p23;p13.3). Am J Hum Genet 85:389-394.
21. Smith A, Ledbetter D, Macha M, Murray J, Dobyns W. 1996. Johanson-Blizzard syndrome maps to chromosome 17p13.3 based on observation of a child with der(17) and both Johanson-Blizzard syndrome and Miller-Dieker syndrome (abstract). Am J Hum Genet 69:A21.
22. Stratton R, Dobyns W, Airhart S, Ledbetter D. 1984. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet 67:193-200.
23. van Zelderen-Bhola S, Breslau-Siderius E, Beverstock G, Stolte-Dijkstra I, De Vries L, Stoutenbeek P, de Pater J. 1997. Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20)(p13.3;q13.3) detected by fluorescence in situ hybridization. Prenat Diagn 17(2):173-179.
24. Voullaire L, Saffery R, Davies J, Earle E, Kalitsis P, Slater H, Irvine D, Choo K. 1999. Trisomy 20p resulting from inverted duplication and neocentromere formation. Am J Med Genet 85:403-408.