title: Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.
abstract: Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p23.3 segment, detected by SNP-array analysis, in a 5 year-old boy showing hypotonia, overweight, dysmorphic facial features and cryptorchidism. We compared the clinical features of the present case to previously described patients with deletions within this chromosomal region. Our case adds new information to the deletion of the distal part of chromosome 2p improving the knowledge on this rearrangement.
authors.affiliation: Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137 Trieste, Italy. roccams1@gmail.com
authors.forename: Maria Santa
authors.initials: MS
authors.lastname: Rocca
authors.forename: Flavio
authors.initials: F
authors.lastname: Faletra
authors.forename: Raffaella
authors.initials: R
authors.lastname: Devescovi
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.forename: Vanna
authors.initials: V
authors.lastname: Pecile
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D055028:Comparative Genomic Hybridization; D003456:Cryptorchidism / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D019066:Facies; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide