7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature

Rossella Caselli, Lucia Ballarati, Aglaia Vignoli, Angela Peron, Maria Paola Recalcati, Ilaria Catusi, Lidia Larizza, Daniela Giardino

Research output: Contribution to journalArticlepeer-review

Abstract

A new 7p22.1 microduplication syndrome characterized by intellectual disability, speech delay and craniofacial dysmorphisms, such as macrocephaly, hypertelorism and ear anomalies, has been outlined by the description of two patients with interstitial microduplications confined to 7p22.1 and the recently defined minimal overlapping 430 kb critical region including five genes. Here we report on the first adult patient aged 35 years with moderate intellectual disability, psychomotor delay, facial dysmorphisms, cryptorchidism and cardiac anomalies, who carries two close microduplications at 7p22.1 of about 900 and 150 kb, respectively. The proximal smaller duplication includes three coding genes and maps outside the minimal described overlapping duplicated region, while the larger one represents the smallest 7p22.1 microduplication reported so far, as it encompasses the entire minimal region with only four additional genes. We compare the phenotype of our patient with that of the few reported cases and discuss on candidate genes in order to enhance the knowledge on genotypeephenotype correlation in 7p22.1 duplication syndrome.

Original languageEnglish
Pages (from-to)578-583
Number of pages6
JournalEuropean Journal of Medical Genetics
Volume58
Issue number11
DOIs
Publication statusPublished - 2015

Keywords

  • 7p22.1
  • Array-CGH
  • Language delay
  • Microduplication syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of '7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature'. Together they form a unique fingerprint.

Cite this