title: A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.
abstract: Interstitial deletions of chromosome 14 have rarely been described. We report on a boy in whom a 2 Mb deletion in 14q13 was discovered by array CGH. The deletion was a de novo event. The boy presented with asymmetrical growth retardation at birth. There was severe developmental delay with muscular hypotonia and focal epilepsy with apneic episodes progressing to serial tonic seizures. At the age of 3 3/12 years he was diagnosed with pneumonia. In the further course he developed symptoms of hemophagocytic lymphohistiocytosis. He died due to organ failure. Herein the clinical findings are compared to patients with cytogenetic visible deletions encompassing the region deleted in the proband and the possible connection with the deleted genes.
authors: Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Germany. caliebe@medgen.uni-kiel.de
authors: Almuth
authors: A
authors: Caliebe
authors: Jose I
authors: JI
authors: Martin Subero
authors: Hiltrud
authors: H
authors: Muhle
authors: Stefan
authors: S
authors: Gesk
authors: Ute
authors: U
authors: Jänig
authors: Martin
authors: M
authors: Krause
authors: Hansjörg
authors: H
authors: Plendl
authors: Ulrich
authors: U
authors: Stephani
authors: Reiner
authors: R
authors: Siebert
authors: Christel
authors: C
authors: Eckmann-Scholz
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D051359:Lymphohistiocytosis, Hemophagocytic / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008297:Male; D010641:Phenotype