title: 1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.
abstract: 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.
authors.affiliation: Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. jezela@gmail.com
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jezela-Stanek
authors.forename: Marzena
authors.initials: M
authors.lastname: Kucharczyk
authors.forename: Magdalena
authors.initials: M
authors.lastname: Pelc
authors.forename: Anna
authors.initials: A
authors.lastname: Gutkowska
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Krajewska-Walasek
mesh_terms: D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007859:Learning Disabilities / Q000235:genetics; D019699:Thrombospondins / Q000235:genetics; D023083:beta-Defensins / Q000235:genetics; D000098907:R-Spondins
chemical_list: D019699:Thrombospondins; D023083:beta-Defensins; C426184:DEFB126 protein, human; C516169:RSPO4 protein, human; D000098907:R-Spondins