1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype

European Journal of Medical Genetics
Olaug K RødningenOddveig Røsby

Abstract

We report two new patients with the 1.4Mb recurrent 22q11.2 distal deletion syndrome. Features common to both children, as well as to several of the previously reported cases, include normal palate, smooth philtrum, hypoplastic alae nasi and delayed development. Both children are small but not growth retarded, and are microcephalic. Their developmental delay is global and most pronounced for language acquisition. One child has unilateral sensorineural hearing loss and encopresis, and the other child has treatment-responsive nocturnal epileptogenic activity. These two new cases confirm the recurrent nature of the deletion and help to further delineate the phenotype.

References

Jul 27, 1999·American Journal of Human Genetics·S C SaittaB S Emanuel
Jan 9, 2008·American Journal of Human Genetics·Shay Ben-ShacharAnkita Patel

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Citations

Jan 21, 2011·European Journal of Human Genetics : EJHG·Bregje W M van BonBert B A de Vries
Jun 15, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Fady M MikhailAndrew J Carroll
May 11, 2010·Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række·Olaug K RødningenGunnar Houge
Oct 16, 2012·European Journal of Medical Genetics·Christina R FagerbergKeld Sorensen
Feb 10, 2012·American Journal of Medical Genetics. Part a·Jeroen BreckpotKoenraad Devriendt
Sep 11, 2010·American Journal of Medical Genetics. Part a·Keiko ShimojimaToshiyuki Yamamoto
Aug 16, 2014·American Journal of Medical Genetics. Part a·Chiara LeoniAlan F Rope
Aug 16, 2014·American Journal of Medical Genetics. Part a·Patrick RumpConny M van Ravenswaaij-Arts
Jul 4, 2015·Journal of Medical Genetics·C P Barnett, B W M van Bon
Apr 29, 2016·BioMed Research International·Ana Julia Cunha LeiteLysa Bernardes Minasi
Dec 29, 2010·European Journal of Medical Genetics·R A BeddowA G Hunter
Jul 6, 2014·American Journal of Medical Genetics. Part a·Maria Raquel Santos CarvalhoVitor Geraldi Haase
Aug 8, 2015·Molecular Genetics & Genomic Medicine·Valerie LindgrenMichael Schrift
Jun 15, 2011·American Journal of Medical Genetics. Part a·Tiong Yang TanDavid J Amor
Jan 29, 2011·American Journal of Medical Genetics. Part a·Willem VerhoevenNicole de Leeuw
Dec 14, 2018·Frontiers in Psychology·Lívia de Fátima Silva OliveiraVitor Geraldi Haase

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