An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome

Academic Article

Abstract

  • Ehlers-Danlos syndrome has been divided into several different types according to the variety and severity of clinical manifestations, and may follow autosomal dominant, autosomal recessive, or X linked patterns of inheritance. Only rarely have chromosome anomalies been seen in patients manifesting phenotypic features of the syndrome and most are considered insignificant. However, one case report involved a balanced t(9;17)(q34;q11) in a female with the clinical features of Ehlers-Danlos type I and IV symdromes and, as noted by McKusick: 'It is possible, furthermore, that certain very rare syndromes that are transmitted in a Mendelian manner are the result of small chromosome aberrations, such as deletion or inversion affecting the action of several genes'. We present a 14 year old male with features of Ehlers-Danlos type II syndrome and an unbalanced (6q;13q) translocation.
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    Digital Object Identifier (doi)

    Author List

  • Scarbrough PR; Daw J; Carroll AJ; Finley SC
  • Start Page

  • 226
  • End Page

  • 228
  • Volume

  • 21
  • Issue

  • 3