title: Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22.
abstract: Interstitial duplications of the short arm of chromosome 2 have been rarely described. Here, we report on two unrelated patients with overlapping chromosome 2p16 → p22 de novo microduplications found by SNP-array analysis. The affected individuals were an 8-year-3-month-old boy with a direct duplication of approximately 14.6 Mb harboring 63 genes, and a 12-year-old girl with a direct duplication of around 9.6 Mb harboring 48 genes. Both patients have severe growth retardation, delayed bone age, prominent veins on trunk and extremities, total IGF1 level in the low range, mild developmental delay, and facial dysmorphism such as relative macrocephaly, a broad and prominent forehead, and a large anterior fontanelle. Comparison with patients previously reported in the literature and in the DECIPHER 5.1 and ECARUCA databases indicates a common region of interest of around 1.9 Mb responsible for most of the features. Two candidate genes (EPAS and RHOQ), may be particularly relevant for the marked growth retardation and developmental delay.
authors.affiliation: Department of Pediatrics, Landeskrankenhaus Feldkirch, Academic Teaching Hospital, Austria.
authors.forename: Anya
authors.initials: A
authors.lastname: Blassnig-Ezeh
authors.forename: Claude
authors.initials: C
authors.lastname: Bandelier
authors.forename: Anne
authors.initials: A
authors.lastname: Frühmesser
authors.forename: Nicole
authors.initials: N
authors.lastname: Revencu
authors.forename: Birgit
authors.initials: B
authors.lastname: Krabichler
authors.forename: Véronique
authors.initials: V
authors.lastname: Beauloye
authors.forename: Marie
authors.initials: M
authors.lastname: Ravoet
authors.forename: Christine
authors.initials: C
authors.lastname: Fauth
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
authors.forename: Burkhard
authors.initials: B
authors.lastname: Simma
authors.forename: Dieter
authors.initials: D
authors.lastname: Kotzot
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics; D002648:Child; D058674:Chromosome Duplication / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D020741:rho GTP-Binding Proteins / Q000235:genetics; D000099162:Endothelial PAS Domain-Containing Protein 1
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D020741:rho GTP-Binding Proteins; D000099162:Endothelial PAS Domain-Containing Protein 1; C503256:RHOQ protein, human
keywords: chromosomal rearrangements; delayed bone age; growth retardation; microduplication 2p