Pure Duplication of 19p13.3 in Three Members of a Family with Intellectual Disability and Literature Review. Definition of a New Microduplication Syndrome

Autores de IIS La Fe

• Carmen Orellana Alonso

  Autor

• Mónica Pilar Roselló Piera

  Autor

• Sandra Monfort Membrado

  Autor

• Sonia Mayo De Andres

  Autor

• Juan Silvestre Oltra Soler

  Autor

• Francisco Martinez Soriano

  Autor

Grupos

• Investigación Traslacional en Genética

  

  Leader

  Francisco Martínez Castellano

Abstract

This paper describes the presence of an interstitial pure duplication of 19p13.3 (4.95Mb) in a patient with intellectual disability studied by array-CGH which was initially considered as a de novo alteration. The discovery of the same chromosomal alteration in a first-degree cousin of this patient led us to investigate the presence of insertional translocations, which were consequently found in three family generations. The same duplication was found in three intellectually disabled patients and among the translocation carrier family members a very high incidence of miscarriages are reported. A review of other published cases has allowed us to find three other patients with a similar pure duplication, all of them sharing some common clinical findings such as intrauterine growth retardation, microcephaly, motor and speech delay, moderate to severe intellectual disability, and dysmorphic features. These findings allow us to suggest the presence of a new microduplication syndrome in chromosomal region 19p13.3. (C) 2015 Wiley Periodicals, Inc.

Keywords

• microduplication syndrome; intellectual disability; microcephaly; insertional translocation