Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation

American Journal of Medical Genetics. Part a
R CaselliF Mari

Abstract

Terminal deletions of the long arm of chromosome 7 are well known and are frequently associated with hypotelorism or holoprosencephaly due to the involvement of the SHH gene located in 7q36.3. These deletions are easily detectable with routine subtelomeric MLPA analysis. Deletions affecting a more proximal part of 7q36, namely bands 7q36.1q36.2 are less common, and may be missed by subtelomeric MLPA analysis. We report a 9-year-old girl with a 5.27 Mb deletion in 7q36.1q36.2, and compare her to literature patients proposing a phenotype characterized by mental retardation, unusual facial features, renal hypoplasia and long QT syndrome due to loss of the KCNH2 gene. These characteristics are sufficiently distinct that the syndrome may be diagnosed on clinical grounds.

References

Aug 26, 1993·The American Journal of Cardiology·A Garson
Aug 26, 1993·The American Journal of Cardiology·C Funck-Brentano, P Jaillon
Jul 7, 2000·Journal of Medical Genetics·S J MooreJ C Dean
Nov 25, 2000·Journal of the American College of Cardiology·M Malik, V N Batchvarov
Feb 14, 2006·American Journal of Medical Genetics. Part a·Anne-Marie BisgaardThue Bryndorf
May 12, 2006·Journal of Cardiovascular Electrophysiology·Peter E Light
Nov 8, 2006·European Journal of Medical Genetics·C PescucciA Renieri

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Citations

Jul 8, 2010·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Stefanie WeberRuthild G Weber
Feb 27, 2010·The American Journal of Cardiology·Sami GritliCalum A Macrae
Mar 2, 2016·Taiwanese Journal of Obstetrics & Gynecology·Yan-Qin SongXin-Jie Chen
Sep 9, 2008·Heart Rhythm : the Official Journal of the Heart Rhythm Society·David J Tester, Michael J Ackerman
Nov 18, 2010·American Journal of Medical Genetics. Part a·Line T SehestedZeynep Tümer
Sep 27, 2014·American Journal of Medical Genetics. Part a·Cha Hyohyeon, Cha Gon Lee
Jul 28, 2019·Molecular Genetics & Genomic Medicine·Giuseppe Di StolfoMassimo Carella
Oct 4, 2020·Clinical Genetics·Svetlana A YatsenkoAleksandar Rajkovic

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