title: Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14.
abstract: Pure partial duplication or triplication of the proximal part of chromosome 14 has been reported in only 4 patients. Other individuals with a duplication or triplication of this region have additional chromosome imbalances. We present a new case with a supernumerary marker chromosome in all blood cells and in 35% of the cells an additional smaller marker chromosome. Both markers appeared to be derived from chromosome 14 (del(14)(q21.2) in all cells and del(14)(q11.2) in 35% of the cells). This results in a partial duplication of the proximal region of chromosome 14, combined with a mosaic partial triplication of a smaller segment of the same region. In this paper, we compare the clinical features of this case to those of cases from the literature. Although most of the patients from literature were unbalanced translocation carriers, their clinical features were comparable, except from renal abnormalities.
authors.affiliation: Department of Human Genetics, University Medical Centre Nijmegen, The Netherlands. b.faas@antrg.umcn.nl
authors.forename: B H W
authors.initials: BH
authors.lastname: Faas
authors.forename: J
authors.initials: J
authors.lastname: Van Der Deure
authors.forename: M I
authors.initials: MI
authors.lastname: Wunderink
authors.forename: G
authors.initials: G
authors.lastname: Merkx
authors.forename: H G
authors.initials: HG
authors.lastname: Brunner
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000927:Anticonvulsants / Q000627:therapeutic use; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D020440:Gene Duplication; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant
chemical_list: D000927:Anticonvulsants; D005819:Genetic Markers