Literature DB >> 8244339

Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies.

E J Breslau-Siderius1, J T Wijnen, J G Dauwerse, J M de Pater, F A Beemer, P M Khan.   

Abstract

A de novo duplication of the proximal part of the long arms of chromosome 5 was found in a male born with craniostenosis, ear tags and kidney dysplasia. The nature of the chromosomal aberration was defined by fluorescence in situ hybridization and the origin of the duplication was traced by polymorphic DNA markers. A comparison is made with the published cases showing similar duplications in the long arm of chromosome 5.

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Year:  1993        PMID： 8244339     DOI： 10.1007/bf00216455

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


  19 in total

1.  Mspl RFLP at the D5S122 locus tightly linked to APC.

Authors:  C Breukel; C Tops; E Ras; P M Khan
Journal:  Nucleic Acids Res       Date:  1991-02-11       Impact factor: 16.971

2.  Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'.

Authors:  P Jalbert; H Jalbert; B Sele; C Mouriquand; J Malka; J Boucharlat; H Pison
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

3.  Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia.

Authors:  B C McGillivray; A S Bassett; S Langlois; T Pantzar; S Wood
Journal:  Am J Med Genet       Date:  1990-01

4.  Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5.

Authors:  Y Nakamura; M Lathrop; M Leppert; M Dobbs; J Wasmuth; E Wolff; M Carlson; E Fujimoto; K Krapcho; T Sears
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

5.  Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization.

Authors:  T Kievits; J G Dauwerse; J Wiegant; P Devilee; M H Breuning; C J Cornelisse; G J van Ommen; P L Pearson
Journal:  Cytogenet Cell Genet       Date:  1990

6.  Rapid detection of chromosome 16 inversion in acute nonlymphocytic leukemia, subtype M4: regional localization of the breakpoint in 16p.

Authors:  J G Dauwerse; T Kievits; G C Beverstock; D van der Keur; E Smit; H W Wessels; A Hagemeijer; P L Pearson; G J van Ommen; M H Breuning
Journal:  Cytogenet Cell Genet       Date:  1990

7.  Tandem duplication (5q13 to 22) in a mentally deficient girl.

Authors:  E Kessel; R A Pfeiffer
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132

8.  Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5).

Authors:  S Gilgenkrantz; P Dulucq; J L Bresson; A Gouget; C Pernot; M J Gregoire
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

9.  Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia.

Authors:  T C Gilliam; N B Freimer; C A Kaufmann; P P Powchik; A S Bassett; U Bengtsson; J J Wasmuth
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

10.  CpG island clones from a deletion encompassing the gene for adenomatous polyposis coli.

Authors:  L Varesco; H J Thomas; S Cottrell; V Murday; S J Fennell; S Williams; S Searle; D Sheer; W F Bodmer; A M Frischauf
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205
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  3 in total

1.  Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.

Authors:  D Kotzot; M J Martinez; G Bagci; S Basaran; A Baumer; F Binkert; L Brecevic; C Castellan; K Chrzanowska; F Dutly; A Gutkowska; S B Karaüzüm; M Krajewska-Walasek; G Luleci; P Miny; M Riegel; S Schuffenhauer; H Seidel; A Schinzel
Journal:  J Med Genet       Date:  2000-04       Impact factor: 6.318

2.  FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish.

Authors:  I Balikova; K Devriendt; J-P Fryns; J R Vermeesch
Journal:  Mol Syndromol       Date:  2011-05-18

Review 3.  Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances.

Authors:  Joana Barbosa Melo; Liesbeth Backx; Joris R Vermeesch; Heloisa G Santos; Ana C Sousa; Nadezda Kosyakova; Anja Weise; Ferdinand von Eggeling; Thomas Liehr; Isabel Marques Carreira
Journal:  J Appl Genet       Date:  2011-03-25       Impact factor: 3.240
  3 in total

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