Deletion 2p15-16.1 syndrome: Case report and review

Paolo Prontera, Laura Bernardini, Gabriela Stangoni, Anna Capalbo, Daniela Rogaia, Rita Romani, Carmela Ardisia, Bruno Dallapiccola, Emilio Donti

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a 9-year-old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7) inv(7)(q21.1q32.1)t(1;7)(q23q32.1)]; and a 2p16.1 deletion, spanning about 3.5Mb of genomic DNA, shown by SNP-array analysis [arr 2p16.1 (56,706,666-60,234,485)x1 dn]. Clinical features and cytogenetic imbalance in our patient were similar to those reported in five published cases, suggesting that this genomic region is prone to recombination and its hemizygosity results in a distinct although variable spectrum of clinical manifestations.

Original languageEnglish
Pages (from-to)2473-2478
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number10
DOIs
Publication statusPublished - Oct 2011

Keywords

  • 2p16.1 microdeletion
  • Autism
  • FANCL
  • Intellectual disability
  • Optic nerve hypoplasia
  • Review
  • SNP-array
  • VRK2

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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