title: De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.
abstract: Deletion of the terminal part of long arm of chromosome 4 is a condition characterized by facial dysmorphisms, cardiac and limb defects, and developmental delay. Deletions usually involve the terminal part of the chromosome and most frequently are interstitial. Here, we report a de novo interstitial deletion resulting in a microdeletion of 6.9 Mb involving 4q31.3-q32.1 segment, detected by SNPs-Array technique in a 4-year-old female showing severe speech delay, mild facial dysmorphisms, and joint laxity. Phenotype-genotype relationships looking at the genes involved in this part of the chromosome were also carried out and data compared with those previously described.
authors.affiliation: S.C. Medical Genetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy. fabretto@burlo.trieste.it
authors.forename: Antonella
authors.initials: A
authors.lastname: Fabretto
authors.forename: Maria
authors.initials: M
authors.lastname: Santa Rocca
authors.forename: Maria Dolores
authors.initials: MD
authors.lastname: Perrone
authors.forename: Aldo
authors.initials: A
authors.lastname: Skabar
authors.forename: Vanna
authors.initials: V
authors.lastname: Pecile
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*