Aleksandra Jezela-Stanek and Marzena Kucharczyk both authors equally contributed to this work.
Article first published online: 19 NOV 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 1, pages 172–178, January 2013
How to Cite
Jezela-Stanek, A., Kucharczyk, M., Pelc, M., Gutkowska, A. and Krajewska-Walasek, M. (2013), 1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review. Am. J. Med. Genet., 161: 172–178. doi: 10.1002/ajmg.a.35654
How to Cite this Article: Jezela-Stanek A, Kucharczyk M, Pelc M, Gutkowska A, Krajewska-Walasek M, 2012. 1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review. Am J Med Genet Part A 161A:172–178.
- Issue published online: 22 DEC 2012
- Article first published online: 19 NOV 2012
- Manuscript Accepted: 27 JUN 2012
- Manuscript Received: 14 FEB 2012
- Polish Ministry of Science and Higher Education
- microdeletion 20p;
- terminal deletion 20p;
- learning difficulties;
- frequent upper respiratory infections;
- large fontanelle;
- hypoplastic fingernails;
- cleft palate/uvula;
- comparative genomic hybridization
We report on a 9-year-old girl with subtelomeric 20p microdeletion. She was referred for genetic counseling because of learning difficulties/school problems. During the evaluation short stature, hypoplastic fingernails, submucous cleft palate with cleft uvula, flat feet, and frequent upper respiratory infections, as well as the large fontanelle after birth were observed. No facial dysmorphic features specific for chromosomal aberrations were present. The diagnosis of deletion of 20p13 was established by MLPA, and delineated by arrayCGH. Our report describes the third individual with this approximate deletion, and presents detailed molecular and phenotypic characteristics providing new data supporting future genotype–phenotype study. © 2012 Wiley Periodicals, Inc.