De novo duplication of 7p21.1p22.2 in a Child with autism spectrum disorder and craniofacial dysmorphism

Achandira M. Udayakumar, Watfa Al-Mamari, Abeer Al-Sayegh, Adila Al-Kindy

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in January 2012. The patient was diagnosed with craniofacial dysmorphism, global developmental delay, hypotonia and bilateral cryptorchidism. The duplication was detected by conventional G-banded karyotype analysis/fluorescence in situ hybridisation and confirmed by array comparative genomic hybridisation. To the best of the authors’ knowledge, this is the first report of chromosomal region 7p21.1 involvement in an autistic patient showing features of a 7p duplication phenotype. Identifying genes in the duplicated region using molecular techniques is recommended to promote characterisation of the phenotype and associated condition. It may also reveal the possible role of these genes in autism spectrum disorder.

Original languageEnglish
Pages (from-to)e415-e419
JournalSultan Qaboos University Medical Journal
Volume15
Issue number3
DOIs
Publication statusPublished - 2015

Keywords

  • Array comparative genomic hybridization
  • Autism spectrum disorder
  • Case report
  • Chromosome 7
  • Craniofacial abnormalities
  • Duplication 7p
  • Oman

ASJC Scopus subject areas

  • Medicine(all)

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