Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst

European Journal of Medical Genetics
Vishwanathan HucthagowderShashikant Kulkarni

Abstract

Chromosome 2p15p16.1 microdeletion is an emerging syndrome recently described in patients with dysmorphic facial features, congenital microcephaly, mild to moderate developmental delay and neurodevelopmental abnormalities. Using clinical ultra-high resolution Affymetrix SNP 6.0 array we identified a de novo interstitial deletion on the short arm of chromosome 2, spanning approximately 2.5 Mb in the cytogenetic band position 2p15p16.1, in a female infant with characteristic features of 2p15p16.1 deletion syndrome including severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect. We further redefined the previously reported critical region, supporting the presence of a newly recognized microdeletion syndrome involving haploinsufficiency of one or more genes deleted within at least a 1.1 Mb segment of the 2p15p16.1 region.

References

Jan 16, 1998·Journal of Gastroenterology and Hepatology·R GuptaV A Saraswat
Dec 25, 2004·Brain Research. Developmental Brain Research·Suzanne Denis-DoniniMariagrazia Grilli
Dec 31, 2008·Molecular Psychiatry·D ZhangE S Gershon
Jul 21, 2009·Molecular and Cellular Neurosciences·Ting-Yu KuoYi-Ping Hsueh
Aug 28, 2010·American Journal of Medical Genetics. Part a·Têmis Maria FélixJeffrey C Murray

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Citations

Apr 23, 2015·Congenital Anomalies·Keiko ShimojimaToshiyuki Yamamoto
Jun 24, 2015·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Katherine M OttoliniSatyen M Gada
May 17, 2015·European Journal of Medical Genetics·Tugce B BalciDavid A Dyment
Jul 28, 2016·American Journal of Human Genetics·Cristina DiasDarren W Logan
Sep 30, 2017·American Journal of Medical Genetics. Part a·Julie SobletNicolas Deconinck
Sep 10, 2014·PloS One·Carolina J JorgezDolores J Lamb
Jul 19, 2017·Molecular Genetics & Genomic Medicine·Hiroko ShimboKenji Kurosawa

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