Literature DB >> 35707598

First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).

Sinem Yalcintepe1, Drenushe Zhuri1, Hazal Sezginer Guler1, Engin Atli1, Selma Demir1, Emine Ikbal Atli1, Cisem Mail1, Hakan Gurkan1.   

Abstract

Jacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease, dextrocardia, and coarse facial appearance was examined in our medical genetics clinic. Chromosome analysis and array-CGH showed a copy number loss of 9 Mb in the 11q24.2q25 region. Herein, we report her clinical findings. This is the first case of Jacobsen syndrome with dextrocardia.
Copyright © 2022 by S. Karger AG, Basel.

Entities:  

Keywords:  Array-CGH; Congenital heart disease; Deletion 11q; Dextrocardia; Jacobsen syndrome

Year:  2022        PMID： 35707598      PMCID： PMC9149402          DOI： 10.1159/000519149

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  15 in total

1.  Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome.

Authors:  L Krishnamurti; J P Neglia; R Nagarajan; S A Berry; J Lohr; B Hirsch; J G White
Journal:  Am J Hematol       Date:  2001-04       Impact factor: 10.047

2.  Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization.

Authors:  Anatole Laleye; Daniele Delneste; Olivier Pradier; Christine Hans; Raphaël Darboux; Gonul Ogur
Journal:  Am J Med Genet       Date:  2002-06-15

3.  Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption.

Authors:  Hideki Fujita; Tadahiro Yanagi; Rika Kosaki; Chiharu Torii; Masahiro Bamba; Takao Takahashi; Kenjiro Kosaki
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

4.  Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?

Authors:  Meena Balasubramanian; Luiz Cesar Peres; Dorothy Pelly
Journal:  Clin Dysmorphol       Date:  2011-01       Impact factor: 0.816

5.  Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: further evidence for phenotypic heterogeneity.

Authors:  Philip F Giampietro; Deepti Babu; Carrie A Zabel; Teresa Silberman; Ivan Zador; David DeBauche; J Britt Ravnan; Bhavana J Dave
Journal:  Am J Med Genet A       Date:  2006-02-15       Impact factor: 2.802

6.  Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

Authors:  Joyce So; Tracy Stockley; Dimitri J Stavropoulos
Journal:  Am J Med Genet A       Date:  2013-12-05       Impact factor: 2.802

7.  Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases.

Authors:  Remi Favier; Katayoun Jondeau; Patrice Boutard; Paul Grossfeld; Philippe Reinert; Christopher Jones; Francesco Bertoni; Elisabeth M Cramer
Journal:  Thromb Haemost       Date:  2003-11       Impact factor: 5.249

8.  Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.

Authors:  Maoqing Ye; Chris Coldren; Xingqun Liang; Teresa Mattina; Elizabeth Goldmuntz; D Woodrow Benson; Dunbar Ivy; M B Perryman; Lee Ann Garrett-Sinha; Paul Grossfeld
Journal:  Hum Mol Genet       Date:  2009-11-26       Impact factor: 6.150

9.  The 11q terminal deletion disorder: a prospective study of 110 cases.

Authors:  Paul D Grossfeld; Teresa Mattina; Zona Lai; Remi Favier; Ken Lyons Jones; Finbarr Cotter; Christopher Jones
Journal:  Am J Med Genet A       Date:  2004-08-15       Impact factor: 2.802

10.  Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

Authors:  Joanna Bernaciak; Krzysztof Szczałuba; Katarzyna Derwińska; Barbara Wiśniowiecka-Kowalnik; Ewa Bocian; Maria Małgorzata Sasiadek; Izabela Makowska; Paweł Stankiewicz; Robert Smigiel
Journal:  Am J Med Genet A       Date:  2008-10-01       Impact factor: 2.802
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