The Xp contiguous deletion syndrome and autism

Marwan Shinawi, Ankita Patel, Prisana Panichkul, Roxanne Zascavage, Sarika U. Peters, Fernando Scaglia

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

Xp22 nullisomy in males causes a phenotype consistent with the loss of one or more of the genes located in this chromosomal region. Females with similar Xp deletions rarely manifest the same phenotype. Here we describe a 10-year-old girl with a de novo interstitial deletion encompassing Xp22.2p22.32 who presented with autism, moderate mental retardation, and some dysmorphic features. The deletion was delineated by FISH and STR analyses, and the breakpoints were determined using the Agilent 244 K oligonucleotide array. We found that the 5.5 Mb deletion is located on the paternal X chromosome and encompasses 18 genes. Further molecular and cytogenetic analyses showed unfavorable skewing of X-inactivation of the maternal (intact) chromosome. The phenotype of our patient was compared with previously reported female patients with deletions encompassing the same chromosomal region. We discuss the potential role of the genes in the deleted region and X chromosome inactivation in the pathogenesis of the phenotypic abnormalities seen in our patient. Our findings suggest that the severity and the variability of the clinical findings are determined by the size and the parental origin of the deletions as well as the X-inactivation status.

Original languageEnglish
Pages (from-to)1138-1148
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number6
DOIs
StatePublished - Jun 1 2009
Externally publishedYes

Keywords

  • Autism
  • X-inactivation
  • Xp deletions

Fingerprint Dive into the research topics of 'The Xp contiguous deletion syndrome and autism'. Together they form a unique fingerprint.

  • Cite this

    Shinawi, M., Patel, A., Panichkul, P., Zascavage, R., Peters, S. U., & Scaglia, F. (2009). The Xp contiguous deletion syndrome and autism. American Journal of Medical Genetics, Part A, 149(6), 1138-1148. https://doi.org/10.1002/ajmg.a.32833