Literature DB >> 6162774

An extra idic(15p)(q11) chromosome in Prader-Willi syndrome.

H Fujita, Y Sakamoto, Y Hamamoto.   

Abstract

Using a nonfluorescent AT-specific oligopeptide antibiotic, Distamycin A, on DAPI fluorescent banding of human chromosome (DA-DAPI) as described by Schweizer et al. (1978), we have detected an additional idic(15p) chromosome in a patient with typical Prader-Willi syndrome. On the basis of the evidence available in previous studies and of our own present results, we suspect that the fundamental genetic error in the syndrome is not caused by a chromosome aberration but by a gene aberration on chromosome 15.

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Year:  1980        PMID: 6162774     DOI: 10.1007/BF00290227

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


  8 in total

1.  The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.

Authors:  C J Hawkey; A Smithies
Journal:  J Med Genet       Date:  1976-04       Impact factor: 6.318

2.  The Prader-Willi syndrome with a 15/3 translocation.

Authors:  M Kucerová; M Straková; Z Polívková
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

3.  A case of Prader-Willi syndrome in a girl with a small extra chromosome.

Authors:  M A Ridler; O Garrod; J M Berg
Journal:  Acta Paediatr Scand       Date:  1971-03

4.  [Syndrome associated with adiposis, cryptorchism and mental retardation accompanied by a chromosomal aberration].

Authors:  J Roget; C Mouriquand; Y Bernard; J Patet; J Jobert; C Gilly
Journal:  Pediatrie       Date:  1965 Apr-May

5.  [The Prader-Willi syndrome and 15-15 translocation].

Authors:  J M Emberger; M Rodiere; J Astruc; D Brunel
Journal:  Ann Genet       Date:  1977-12

6.  15/15 translocation in Prader-Willi syndrome.

Authors:  M Fraccaro; O Zuffardi; E M Buhler; L P Jurik
Journal:  J Med Genet       Date:  1977-08       Impact factor: 6.318

7.  Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.

Authors:  D Schweizer; P Ambros; M Andrle
Journal:  Exp Cell Res       Date:  1978-02       Impact factor: 3.905

8.  Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases.

Authors:  K F Michaelsen; C Lundsteen; F J Hansen
Journal:  Clin Genet       Date:  1979-09       Impact factor: 4.438

  8 in total
  20 in total

1.  Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

Authors:  J A Crolla; J F Harvey; F L Sitch; N R Dennis
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

2.  Maternal origin of inv dup(15) chromosomes in infantile autism.

Authors:  T Martinsson; T Johannesson; M Vujic; A Sjöstedt; S Steffenburg; C Gillberg; J Wahlström
Journal:  Eur Child Adolesc Psychiatry       Date:  1996-12       Impact factor: 4.785

3.  Forty four probands with an additional "marker" chromosome.

Authors:  K E Buckton; G Spowart; M S Newton; H J Evans
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  Partial trisomy 22--an old case reexamined.

Authors:  G Kosztolányi; E M Bühler
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

Review 5.  Inv dup(15) supernumerary marker chromosomes.

Authors:  T Webb
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

Review 6.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Supernumerary microchromosomes identified as inverted duplications of chromosome 15: a report of three cases.

Authors:  L P Wisniewski; R A Doherty
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

8.  Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

Authors:  J Leana-Cox; L Jenkins; C G Palmer; R Plattner; L Sheppard; W L Flejter; J Zackowski; F Tsien; S Schwartz
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

9.  Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.

Authors:  M Fraccaro; O Zuffardi; E Bühler; A Schinzel; G Simoni; R Witkowski; E Bonifaci; D Caufin; G Cignacco; N Delendi
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases.

Authors:  J F Mattei; M G Mattei; F Giraud
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

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