Literature DB >> 1879837

Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.

J F De Rijk-van Andel1, C E Catsman-Berrevoets, D J Halley, E Wesby-van Swaay, M F Niermeijer, B A Oostra.   

Abstract

DNA markers YNZ22.1, YNH37.3, 144D6 and VAW508 were studied in a patient with the isolated lissencephaly sequence (ILS). A normal karyotype was found in the patient. The DNA of the patient showed deletions of markers YNZ22.1 and YNH37.3. This is the first report of a case of ILS (with grade 3 lissencephaly) with a submicroscopic deletion. The presence of a microdeletion in 17p13 in an ILS patient indicates that Miller-Dieker syndrome and ILS have a common etiology.

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Year:  1991        PMID： 1879837     DOI： 10.1007/bf00197179

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 in total

Review 1.  The neurogenetics of lissencephaly.

Authors:  W B Dobyns
Journal:  Neurol Clin       Date:  1989-02       Impact factor: 3.806

2.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

3.  Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

Authors:  C E Schwartz; J P Johnson; B Holycross; T M Mandeville; T S Sears; E A Graul; J C Carey; R J Schroer; M C Phelan; J Szollar
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

4.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

5.  Variable number of tandem repeat (VNTR) markers for human gene mapping.

Authors:  Y Nakamura; M Leppert; P O'Connell; R Wolff; T Holm; M Culver; C Martin; E Fujimoto; M Hoff; E Kumlin
Journal:  Science       Date:  1987-03-27       Impact factor: 47.728

6.  A hypervariable RFLP on chromosome 17p13 is defined by an arbitrary single copy probe p144-D6 [HGM9 No. D17S34].

Authors:  S Kondoleon; H Vissing; X Y Luo; R E Magenis; J Kellogg; M Litt
Journal:  Nucleic Acids Res       Date:  1987-12-23       Impact factor: 16.971

7.  Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3.

Authors:  S A Ledbetter; M R Wallace; F S Collins; D H Ledbetter
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

8.  Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.

Authors:  P vanTuinen; W B Dobyns; D C Rich; K M Summers; T J Robinson; Y Nakamura; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

9.  Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region.

Authors:  D H Ledbetter; S A Ledbetter; P vanTuinen; K M Summers; T J Robinson; Y Nakamura; R Wolff; R White; D F Barker; M R Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1989-07       Impact factor: 11.205

10.  Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.

Authors:  W B Dobyns; R F Stratton; F Greenberg
Journal:  Am J Med Genet       Date:  1984-07
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  4 in total

Review 1.  Syndromes with lissencephaly.

Authors:  D T Pilz; O W Quarrell
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

2.  Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly.

Authors:  A Mantel; C Leonard; B Husson; N Miladi; M Tardieu; P Landrieu
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

3.  Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.

Authors:  D T Pilz; A Dalton; A Long; T Jaspan; E L Maltby; O W Quarrell
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

Review 4.  Genetic factors in lissencephaly syndromes: a review.

Authors:  P Miny; W Holzgreve; J Horst
Journal:  Childs Nerv Syst       Date:  1993-11       Impact factor: 1.475
  4 in total

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