Literature DB >> 7418253

Prader-Willi syndrome and a bisatellited derivative of chromosome 15.

L P Wisniewski, M E Witt, F Ginsberg-Fellner, J Wilner, R J Desnick.   

Abstract

A de nova bistaellited derivative of chromosome 15, inv dup (15) (pter leads to q11 or 12::p11 or q11 or 12 leads to pter), was identified by multiple banding techniques in a patient with Prader-Willi syndrome. A comparison of familial no. 15 short arm polymorphisms indicated that the extra chromosome was the result of a non-sister chromatid exchange between the paternal no. 15 homologs prior to or during meiosis.

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Year:  1980        PMID: 7418253     DOI: 10.1111/j.1399-0004.1980.tb01363.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  27 in total

1.  Sotos syndrome.

Authors:  T R Cole; H E Hughes
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

2.  Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization.

Authors:  R Plattner; N A Heerema; S R Patil; P N Howard-Peebles; C G Palmer
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

3.  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

4.  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

5.  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

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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