title: Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.
abstract: Duplication of distal 4p results in a recognizable clinical phenotype. We report here on a 3 year old girl with a de novo inverse duplication of the chromosome segment 4p16.3-p15.3. The symptoms in this patient are milder than those of previously described patients with 4p duplication syndrome and include a deep hairline, deep-set eyes, short pug nose, full cheeks, simian crease, clinodactily of the fifth digit, no speech development and a moderate psychomotor retardation. Fluorescence in situ hybridization (FISH) using a chromosome 4 painting probe confirmed that the extra material is of chromosome 4 origin. Further analysis with the Wolf-Hirschhorn critical region probe demonstrated the duplication of this region. The lysosomal hydrolase alpha-L-iduronidase (IDUA) gene which is mutated in mucopolysaccaridosis type I (MPS I) and mapped to 4p16.3 might be responsible for some of the MPS like facial features. A phenotype-genotype correlation analysis in combination with literature review was undertaken to allow a further delineation of partial trisomy 4p syndromes.
authors.affiliation: Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Austria.
authors.forename: M
authors.initials: M
authors.lastname: Tschernigg
authors.forename: E
authors.initials: E
authors.lastname: Petek
authors.forename: K
authors.initials: K
authors.lastname: Wagner
authors.forename: P M
authors.initials: PM
authors.lastname: Kroisel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008059:Mucopolysaccharidosis I / Q000235:genetics; D013577:Syndrome; D014314:Trisomy