title: An interstitial deletion of chromosome 7 at band q21: a case report and review.
abstract: We report on a girl with moderate developmental delay and mild dysmorphic features. Cytogenetic investigations revealed a de novo interstitial deletion at the proximal dark band on the long arm of chromosome 7 (7q21.1-q21.3) in all analyzed G-banded metaphases of lymphocytes and fibroblasts. Fluorescence in situ hybridization (FISH) and molecular studies defined the breakpoints at 7q21.11 and 7q21.3 on the paternal chromosome 7, with the proximal deletion breakpoint between the elastin gene (localized at 7q11.23) and D7S2517, and the distal breakpoint between D7S652 and the COL1A2 gene (localized at 7q21.3-q22.1). Deletions of interstitial segments at the proximal long arm of chromosome 7 at q21 are relatively rare. The karyotype-phenotype correlation of these patients is reviewed and discussed. The clinical findings of patients with a deletion at 7q21 significantly overlap with those of patients with maternal uniparental disomy of chromosome 7 (matUPD(7)) and Silver-Russell syndrome (SRS, OMIM 180860). Therefore, 7q21 might be considered a candidate chromosomal region for matUPD(7) and SRS.
authors.affiliation: Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium. winnie.courtens@ua.ac.be
authors.forename: Winnie
authors.initials: W
authors.lastname: Courtens
authors.forename: Stefan
authors.initials: S
authors.lastname: Vermeulen
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.forename: Ludwine
authors.initials: L
authors.lastname: Messiaen
authors.forename: Jan
authors.initials: J
authors.lastname: Wauters
authors.forename: Lieve
authors.initials: L
authors.lastname: Nuytinck
authors.forename: Nils
authors.initials: N
authors.lastname: Peeters
authors.forename: Katrien
authors.initials: K
authors.lastname: Storm
authors.forename: Frank
authors.initials: F
authors.lastname: Speleman
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003094:Collagen / Q000235:genetics; D024042:Collagen Type I; D002658:Developmental Disabilities / Q000473:pathology; D005145:Face / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018895:Microsatellite Repeats; D010641:Phenotype
chemical_list: D024042:Collagen Type I; D003094:Collagen