Literature DB >> 1552546

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.

R Tupler1, L Bortotto, E M Bühler, M Alkan, N J Malik, N Bösch-Al Jadooa, L Memo, P Maraschio.   

Abstract

The parental origin of the de novo deleted chromosome 4 was studied in five cases of Wolf-Hirschhorn syndrome using polymorphic probes mapping in the 4p16.3 region. In all the patients the deleted chromosome was found to be of paternal origin and these results, together with similar ones obtained by another group, make the preferential paternal origin of the de novo chromosome 4 deletion highly significant.

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Year:  1992        PMID： 1552546      PMCID： PMC1015823          DOI： 10.1136/jmg.29.1.53

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


  9 in total

Review 1.  Report of the committee on the genetic constitution of chromosome 4.

Authors:  J C Murray; G B van Ommen
Journal:  Cytogenet Cell Genet       Date:  1990

2.  Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.

Authors:  O W Quarrell; R G Snell; M A Curtis; S H Roberts; P S Harper; D J Shaw
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

Review 3.  Genomic imprinting: review and relevance to human diseases.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

4.  Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4.

Authors:  C McKeown; A P Read; A Dodge; O Stecko; A Mercer; R Harris
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

5.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

6.  High resolution R- and G-banding on the same preparation.

Authors:  B Dutrillaux; E Viegas-Pequignot
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 7.  Genomic imprinting and genetic disorders in man.

Authors:  W Reik
Journal:  Trends Genet       Date:  1989-10       Impact factor: 11.639

8.  Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.

Authors:  R E Magenis; S Toth-Fejel; L J Allen; M Black; M G Brown; S Budden; R Cohen; J M Friedman; D Kalousek; J Zonana
Journal:  Am J Med Genet       Date:  1990-03

9.  Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea.

Authors:  W Reik
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318
  9 in total
  6 in total

1.  Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.

Authors:  Noriko Miyake; Naohiro Kurotaki; Hirobumi Sugawara; Osamu Shimokawa; Naoki Harada; Tatsuro Kondoh; Masato Tsukahara; Satoshi Ishikiriyama; Tohru Sonoda; Yoko Miyoshi; Satoru Sakazume; Yoshimitsu Fukushima; Hirofumi Ohashi; Toshiro Nagai; Hiroshi Kawame; Kenji Kurosawa; Mayumi Touyama; Takashi Shiihara; Nobuhiko Okamoto; Junji Nishimoto; Ko-ichiro Yoshiura; Tohru Ohta; Tatsuya Kishino; Norio Niikawa; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2003-04-09       Impact factor: 11.025

Review 2.  Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors:  O Riess; B Winkelmann; J T Epplen
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

3.  A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.

Authors:  W el-Rifai; J Leisti; M Kähkönen; A Pietarinen; M R Altherr; S Knuutila
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

4.  Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.

Authors:  H L Wilson; A C C Wong; S R Shaw; W-Y Tse; G A Stapleton; M C Phelan; S Hu; J Marshall; H E McDermid
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

5.  Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.

Authors:  Marcella Zollino; Rosetta Lecce; Marina Murdolo; Daniela Orteschi; Giuseppe Marangi; Angelo Selicorni; Alina Midro; Giovanni Sorge; Giuseppe Zampino; Luigi Memo; Domenica Battaglia; Michael Petersen; Effie Pandelia; Yolanda Gyftodimou; Francesca Faravelli; Romano Tenconi; Livia Garavelli; Laura Mazzanti; Rita Fischetto; Pietro Cavalli; Salvatore Savasta; Laura Rodriguez; Giovanni Neri
Journal:  Hum Genet       Date:  2007-08-04       Impact factor: 4.132

6.  Phenotypic variations in wolf-hirschhorn syndrome.

Authors:  E Sukarova-Angelovska; M Kocova; V Sabolich; S Palcevska; N Angelkova
Journal:  Balkan J Med Genet       Date:  2014-12-11       Impact factor: 0.519
  6 in total

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