Literature DB >> 8629811

Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome.

K Devriendt1, K De Mars, P De Cock, M Gewillig, J P Fryns.   

Abstract

A child with an atrial septal defect, hypernasal speech with an immobile soft palate, learning difficulties and behavioral problems is reported. The clinical diagnosis in this child was velo-cardio-facial syndrome (VCFS), but cytogenetic analysis showed the presence of a small terminal deletion in 8p23.1-8pter. This observation shows that deletions in 8p23 may lead to features similar to VCFS. This suggests that in patients with VCFS but without a deletion in 22q11, attention should be focussed on 8p.

Entities:  

Mesh：

Year:  1995        PMID： 8629811

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


  9 in total

1.  A girl with pervasive developmental disorder and complex chromosome rearrangement involving 8p and 10p.

Authors:  L Zwaigenbaum; L K Sonnenberg; T Heshka; S Eastwood; J Xu
Journal:  J Autism Dev Disord       Date:  2005-06

2.  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

3.  The general anesthesia experience of deletion 8p syndrome patient -A case report-.

Authors:  Woo Jong Shin; Sang Duk Kim; Kyoung Hun Kim
Journal:  Korean J Anesthesiol       Date:  2011-10-22

4.  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

5.  Genomic profile of copy number variants on the short arm of human chromosome 8.

Authors:  Shihui Yu; Stephanie Fiedler; Andrew Stegner; William D Graf
Journal:  Eur J Hum Genet       Date:  2010-05-12       Impact factor: 4.246

6.  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

7.  Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.

Authors:  Karine Morcel; Tanguy Watrin; Laurent Pasquier; Lucie Rochard; Cédric Le Caignec; Christèle Dubourg; Philippe Loget; Bernard-Jean Paniel; Sylvie Odent; Véronique David; Isabelle Pellerin; Claude Bendavid; Daniel Guerrier
Journal:  Orphanet J Rare Dis       Date:  2011-03-15       Impact factor: 4.123

8.  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

9.  Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.

Authors:  Dandan Wu; Yang Chen; Chen Xu; Ke Wang; Huijun Wang; Fengyun Zheng; Duan Ma; Guomin Wang
Journal:  PLoS One       Date:  2013-01-16       Impact factor: 3.240
  9 in total

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