title: Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
abstract: Chromosomal imbalances are a major cause of intellectual disability (ID) and multiple congenital anomalies. We have clinically and molecularly characterized two patients with chromosome translocations and ID. Using whole genome array CGH analysis, we identified a microdeletion involving 4q21.3, unrelated to the translocations in both patients. We confirmed the 4q21.3 microdeletions using fluorescence in situ hybridization and quantitative genomic PCR. The corresponding deletion boundaries in the patients were further mapped and compared to previously reported 4q21 deletions and the associated clinical features. We determined a common region of deletion overlap that appears unique to ID, short stature, hypotonia, and dysmorphic facial features.
authors.affiliation: J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
authors.forename: Lynn
authors.initials: L
authors.lastname: Dukes-Rimsky
authors.forename: Gregory F
authors.initials: GF
authors.lastname: Guzauskas
authors.forename: Kenton R
authors.initials: KR
authors.lastname: Holden
authors.forename: Rachel
authors.initials: R
authors.lastname: Griggs
authors.forename: Sydney
authors.initials: S
authors.lastname: Ladd
authors.forename: Maria del Carmen
authors.initials: Mdel C
authors.lastname: Montoya
authors.forename: Barbara R
authors.initials: BR
authors.lastname: DuPont
authors.forename: Anand K
authors.initials: AK
authors.lastname: Srivastava
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D057215:Body Dysmorphic Disorders / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D017403:In Situ Hybridization; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D016133:Polymerase Chain Reaction; D014178:Translocation, Genetic