Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation

Journal of Medical Genetics

Volumn 33, Issue 1, 1996, Pages 69-72

  Kingston, Helen M ^a   Ledbetter, David H ^b   Tomlin, Pam I ^c   Gaunt, K Lorraine ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c ROYAL PRESTON HOSPITAL   (United Kingdom)

Author keywords

Chromosome 17 inversion; Fluorescence in situ hybridisation; Miller Dieker syndrome

Indexed keywords

AGYRIA; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME 17; CHROMOSOME ANALYSIS; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; PERICENTRIC CHROMOSOME INVERSION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

ACRONICTA LEPORINA;

EID: 0030064783     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.1.69     Document Type: Article

References (29)

1. Dobyns WB. The neurogenetics of lissencephaly. Neurol Clin 1989;7:89-105.
2. Miller JQ. Lissencephaly in two siblings. Neurology 1963;13:841-50.
3. Dieker H, Edwards RH, Zurhein G, Chou SM, Hartman HA, Opitz JM. The lissencephaly syndrome. Birth Defects 1969;2:53-64.
4. Jones KL, Gilbert EF, Kaveggia EG, Opitz JM. The Miller-Dieker syndrome. Pediatrics 1980;66:277-81.
5. Dobyns WE, Curry CJR, Hoyme HE, Turlington L, Ledbetter DH. Clinical and molecular diagnosis of Miller-Dicker syndrome. Am J Hum Genet 1991;48:584-94.
6. Schwanz CE, Johnson JP, Holycross B, et al. Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am J Hum Genet 1988;43:597-604.
7. vanTuinen P, Dobyns WB, Rich DC, et al. Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet 1988;43:587-96.
8. Ledbetter DH, Ledbetter SA, vanTuinen P, et al. Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region. Proc Natl Acad Sci USA 1989;86:5136-10.
9. 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;49:707-14.
10. Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet 1992;50:182-9.
11. Reiner O, Carrozzo R, Shen Y, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein β-subunit-like repeats. Nature 1993;364:717-21.
12. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993;270:2838-12.
13. Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor. Nature 1994;370:216-8.
14. Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet 1984;67:193-200.
15. Gastaut H, Pinsard N, Raybaud C, Aicardi J, Zifkin B. Lissencephaly (agyria-pachygyria): clinical findings and serial EEG studies. Dev Med Child Neurol 1987;29:167-80.
16. Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr 1983;102:552-8.
17. Carpenter NJ, Leichtman LG, Stamper S, Say B. An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome? J Med Genet 1981;18:234-6.
18. Sharief N, Craze J, Summers D, Butler L, Wood CBS. Miller-Dieker syndrome with ring chromosome 17. Arch Dis Child 1991;66:710-2.
19. Berry R, Wilson H, Robinson J, et al. Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t (7,17)(q34;p 13.1 ). Am J Med Genet 1989;34:358-65.
20. Greenberg F, Stratton RF, Lockhart LH, Elder FFB, Dobyns WB, Ledbetter DH. Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. Am J Med Genet 1986;23:853-9.
21. Serotkin A, Stamberg J, Waber L. Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome. J Med Genet 1988;25:258-69.
22. Bridge J, Sanger W, Mosher G, et al. Partial duplication of distal 17q. Am J Med Genet 1985;22:229-35.
23. Daube JR, Chou SM. Lissencephaly: two cases. Neurology 1966;16:179-91.
24. Caine A, Knapton DM, Mueller RF, Congdon PJ, Haigh D. Duplication of distal 17q from a maternal translocation: an additional case with some unique features. J Med Genet 1989;26:577-89.
25. Ledbetter DH. Minireview; cryptic translocation and telomere integrity. Am J Hum Genet 1992;51:451-6.
26. Sullivan BA, Leana-Cox J, Schwartz S. Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridisation. Am J Med Genet 1993;47:223-30.
27. Alvarado M, Bass HN, Caldwell S, Jamehdor M, Miller AA, Jacob P. Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridisation in a family with multiple affected offspring. Am J Dis Child 1993;147:1291-4.
28. Kohler A, Hain J, Muller U. Familial half cryptic translocation t(9;17). J Med Genet 1994;31:712-4.
29. Brecevic L, Binkert F, Boltshauser E, Schinzel A. Fluorescent in situ hybridisation detection of a balanced t(9; 17) translocation in the father of a child with lissencephaly and additional abnormalities. Dev Brain Dysfunct 1994;7:147-54.