Literature DB >> 2573313

Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:).

J P Fryns1, A Kleczkowska, A Vogels, H Van den Berghe.   

Abstract

In this report we present a 9-year-old boy with mental retardation, behavioural problems and terminal deletion of the short arm of chromosome 8(8pter----8p23.1:). In contrast with previously reported patients with larger terminal and interstitial 8p deletions he did not present major phenotypic abnormalities.

Entities:  

Mesh：

Year:  1989        PMID： 2573313

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  11 in total

1.  Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome.

Authors:  S L Graw; T Sample; J Bleskan; E Sujansky; D Patterson
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

Review 2.  Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.

Authors:  M J Pettenati; N Rao; C Johnson; R Hayworth; K Crandall; O Huff; I T Thomas
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

Review 3.  Partial trisomy 1(q42-->qter): a new case with a mild phenotype.

Authors:  D Concolino; R Cinti; L Ferraro; M T Moricca; P Strisciuglio
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

4.  Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Authors:  K Devriendt; G Matthijs; R Van Dael; M Gewillig; B Eyskens; H Hjalgrim; B Dolmer; J McGaughran; K Bröndum-Nielsen; P Marynen; J P Fryns; J R Vermeesch
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

5.  Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.

Authors:  J J Engelen; C E de Die-Smulders; J M Sijstermans; L E Meers; J C Albrechts; A J Hamers
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

6.  Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

Authors:  Mauro Longoni; Kasper Lage; Meaghan K Russell; Maria Loscertales; Omar A Abdul-Rahman; Gareth Baynam; Steven B Bleyl; Paul D Brady; Jeroen Breckpot; Chih P Chen; Koenraad Devriendt; Gabriele Gillessen-Kaesbach; Arthur W Grix; Alan F Rope; Osamu Shimokawa; Bernarda Strauss; Dagmar Wieczorek; Elaine H Zackai; Caroline M Coletti; Faouzi I Maalouf; Kristin M Noonan; Ji H Park; Adam A Tracy; Charles Lee; Patricia K Donahoe; Barbara R Pober
Journal:  Am J Med Genet A       Date:  2012-11-19       Impact factor: 2.802

7.  Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.

Authors:  Gene S Fisch; Ryan Davis; Janey Youngblom; Jeff Gregg
Journal:  Behav Genet       Date:  2011-01-23       Impact factor: 2.805

8.  Distal 8p deletion (8p23.1----8pter): a common deletion?

Authors:  R Hutchinson; M Wilson; L Voullaire
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

9.  Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Authors:  Margaret J Wat; Oleg A Shchelochkov; Ashley M Holder; Amy M Breman; Aditi Dagli; Carlos Bacino; Fernando Scaglia; Roberto T Zori; Sau Wai Cheung; Daryl A Scott; Sung-Hae Lee Kang
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

10.  Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report.

Authors:  Roland Haj; Kelly Jackson; Beth A Torchia; Lisa G Shaffer; Bassem A Bejjani; Gordon C Gowans; Michael W Ruff
Journal:  Mol Cytogenet       Date:  2009-01-07       Impact factor: 2.009
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