Literature DB >> 1609823

Nonrandom association of atrioventricular canal and del (8p) syndrome.

B Marino1, A Reale, A Giannotti, M C Digilio, B Dallapiccola.   

Abstract

We describe a patient with partial deletion of the short arm of chromosome 8 with an atrioventricular canal. This type of congenital heart defect was found in 4 of the 7 previously reported del (8p) children with a congenital heart defect in which the cardiac assessment was complete. The prevalence of an atrioventricular canal in this aneuploidy is high and suggests a nonrandom association of the 2 anomalies.

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Year:  1992        PMID： 1609823     DOI： 10.1002/ajmg.1320420404

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


  9 in total

1.  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

2.  Exclusion of linkage with chromosome 21 in families with recurrence of non-Down's atrioventricular canal.

Authors:  M Gennarelli; G Novelli; M C Digilio; A Giannotti; B Marino; B Dallapiccola
Journal:  Hum Genet       Date:  1994-12       Impact factor: 4.132

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.  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

Review 5.  Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis.

Authors:  Guruprasad Mahadevaiah; Manoj Gupta; Ravi Ashwath
Journal:  Tex Heart Inst J       Date:  2015-10-01

6.  Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.

Authors:  M C Digilio; B Marino; A Giannotti; B Dallapiccola
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

Review 7.  Complete atrioventricular canal.

Authors:  Raffaele Calabrò; Giuseppe Limongelli
Journal:  Orphanet J Rare Dis       Date:  2006-04-05       Impact factor: 4.123

8.  Identification of candidate genes for congenital heart defects on proximal chromosome 8p.

Authors:  Tingting Li; Chunjie Liu; Yuejuan Xu; Qianqian Guo; Sun Chen; Kun Sun; Rang Xu
Journal:  Sci Rep       Date:  2016-11-03       Impact factor: 4.379

9.  De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay.

Authors:  Giovanna Piovani; Giulia Savio; Michele Traversa; Alba Pilotta; Giuseppina De Petro; Sergio Barlati; Chiara Magri
Journal:  Mol Cytogenet       Date:  2014-04-15       Impact factor: 2.009
  9 in total

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