1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review12. Issue 1 (19th November 2012)

• Record Type: Journal Article
• Authors: Jezela‐Stanek, Aleksandra; Kucharczyk, Marzena; Pelc, Magdalena; Gutkowska, Anna; Krajewska‐Walasek, Małgorzata
• Is Part Of: American journal of medical genetics. Volume 161:Issue 1(2013:Jan.)
• Page Start: 172
• Page End: 178
• Publication Date: 2012-11-19
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35654
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p>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.</p> </abstract>