• 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.