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A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome.

AuthorsIlse Wieland, Denny Schanze, Ina Schanze, Marianne Volleth, Petra Muschke, Martin Zenker
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 164A Issue 12 Pg. 3213-4 (Dec 2014) ISSN: 1552-4833 [Electronic] United States
PMID25251057 (Publication Type: Case Reports, Letter)
Topics
  • Chromosomes, Human, Pair 17 (genetics)
  • Chromosomes, Human, Pair 4 (genetics)
  • Deaf-Blind Disorders (classification, genetics)
  • Epilepsy (classification, genetics)
  • Growth Disorders (classification, genetics)
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Mental Retardation, X-Linked (classification, genetics)
  • Microarray Analysis (methods)
  • Translocation, Genetic (genetics)
  • Wolf-Hirschhorn Syndrome (genetics)

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