Literature DB >> 933113

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

C J Hawkey, A Smithies.   

Abstract

A case, diagnosed clinically as the Prader-Willi syndrome, was shown by Giemsa banding, to have a 15/15 chromosome translocation. A review of the literature indicates that such a translocation has only been described once before, in a normal woman, but that chromosme abnormalities in the Prader-Willi syndrome most commonly involve the D group. The significance of this would be clarified by specific chromosome identification in these patients.

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Year:  1976        PMID: 933113      PMCID: PMC1013377          DOI: 10.1136/jmg.13.2.152

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  29 in total

1.  HYPOGENITAL DYSTROPHY WITH DIABETIC TENDENCY.

Authors:  P R EVANS
Journal:  Guys Hosp Rep       Date:  1964

2.  [Chromosomal translocation in a mentally deficient child with cryptorchidism].

Authors:  E M BUHLER; R ROSSIER; I BODIS; V VULLIET; U K BUHLER; G STALDER
Journal:  Acta Paediatr       Date:  1963-03       Impact factor: 2.299

3.  PRADER-WILLI SYNDROME IN BOY OF TEN WITH PREDIABETES.

Authors:  H FORSSMAN; B HAGBERG
Journal:  Acta Paediatr       Date:  1964-01       Impact factor: 2.299

4.  Benign congenital hypotonia with chromosomal anomaly.

Authors:  H G DUNN; D K FORD; N AUERSPERG; J R MILLER
Journal:  Pediatrics       Date:  1961-10       Impact factor: 7.124

5.  Cardiorespiratory syndrome of obesity in a child; case report and necropsy findings.

Authors:  M JENAB; R I LADE; M CHIGA; A M DIEHL
Journal:  Pediatrics       Date:  1959-07       Impact factor: 7.124

6.  Forme fruste of the Prader-Willi syndrome (HHHO) and balanced D-E translocation.

Authors:  H J Schneider; H Zellweger
Journal:  Helv Paediatr Acta       Date:  1968-04

7.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

8.  Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome.

Authors:  H Zellweger; H J Schneider
Journal:  Am J Dis Child       Date:  1968-05

9.  Prader-Willi syndrome: report of cases.

Authors:  S C Foster
Journal:  J Am Dent Assoc       Date:  1971-09       Impact factor: 3.634

10.  Translocation between both members of chromosome pair number 15 causing recurrent abortions.

Authors:  M Lucas
Journal:  Ann Hum Genet       Date:  1969-05       Impact factor: 1.670

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  24 in total

1.  Translocation D/D involving two homologous chromosomes of the pair 15.

Authors:  J Zizka; P Balícek; A Finková
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132

2.  [Monogenic and syndromic symptoms of morbid obesity. Rare but important].

Authors:  S Wiegand; H Krude
Journal:  Internist (Berl)       Date:  2015-02       Impact factor: 0.743

3.  The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

Authors:  M J Mascari; W Gottlieb; P K Rogan; M G Butler; D A Waller; J A Armour; A J Jeffreys; R L Ladda; R D Nicholls
Journal:  N Engl J Med       Date:  1992-06-11       Impact factor: 91.245

4.  Prader-Willi syndrome in siblings, due to unbalanced translocation between chromosomes 15 and 22.

Authors:  F Fernandez; C Berry; D Mutton
Journal:  Arch Dis Child       Date:  1987-08       Impact factor: 3.791

5.  Dicentric Robertsonian translocation in man. 17 cases studied by R,C, and N banding.

Authors:  M G Mattei; J F Mattei; S Ayme; F Giraud
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

6.  Sudden cardiac death in a child affected by Prader-Willi syndrome.

Authors:  Cristoforo Pomara; Stefano D'Errico; Irene Riezzo; Gian Pio de Cillis; Vittorio Fineschi
Journal:  Int J Legal Med       Date:  2005-03-05       Impact factor: 2.686

Review 7.  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

8.  A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members.

Authors:  A Smith; M Noel
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

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

Authors:  H Fujita; Y Sakamoto; Y Hamamoto
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

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