Literature DB >> 7904122

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.

B Dallapiccola1, P Mandich, E Bellone, A Selicorni, V Mokin, F Ajmar, G Novelli.   

Abstract

We report on molecular studies in 7 patients with Wolf-Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These observations corroborate evidence for preferential paternal origin of the de novo 4p chromosome deletion. The overall results of molecular studies suggest that the preponderance of paternally derived WHC could be due, rather than to imprinting of this region, to an excess of structural rearrangements in the male meiosis, related to differences between the mechanisms of sperm and egg production.

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Year:  1993        PMID： 7904122     DOI： 10.1002/ajmg.1320470622

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  8 in total

1.  Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

Authors:  S G Kant; A Van Haeringen; E Bakker; I Stec; D Donnai; P Mollevanger; G C Beverstock; M C Lindeman-Kusse; G J Van Ommen
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Advanced age increases chromosome structural abnormalities in human spermatozoa.

Authors:  Cristina Templado; Anna Donate; Jesús Giraldo; Mercè Bosch; Anna Estop
Journal:  Eur J Hum Genet       Date:  2010-11-03       Impact factor: 4.246

3.  Detailed mapping of a congenital heart disease gene in chromosome 3p25.

Authors:  E K Green; M D Priestley; J Waters; C Maliszewska; F Latif; E R Maher
Journal:  J Med Genet       Date:  2000-08       Impact factor: 6.318

4.  De novo duplication in Charcot-Marie-Tooth type 1A.

Authors:  P Mandich; E Bellone; A Schenone; G Mancardi; M Abbruzzese; F Ajmar
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

5.  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

6.  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

7.  Extremely low birthweight infant with wolf-hirschhorn syndrome: a dilemma in determination of the optimal timing of delivery.

Authors:  Shigeo Iijima; Takehiko Ohzeki
Journal:  Clin Med Case Rep       Date:  2008-05-16

8.  Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.

Authors:  Stavros Sifakis; Emmanouil Manolakos; Annalisa Vetro; Dimitra Kappou; Panagiotis Peitsidis; Maria Kontodiou; Antonios Garas; Nikolaos Vrachnis; Anastasia Konstandinidou; Orsetta Zuffardi; Sandro Orru; Ioannis Papoulidis
Journal:  Mol Cytogenet       Date:  2012-02-28       Impact factor: 2.009
  8 in total

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