Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome

Erica Tsang, Rosemarie Rupps, Barbara Mcgillivray, Patrice Eydoux, Marco Marra, Laura Arbour, Sylvie Langlois, Jan M. Friedman, Farah R. Zahir

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3 Citations (Scopus)

Abstract

[Bonnet et al. (2010); J Med Genet 47: 377-384] recently suggested a 4q21 microdeletion syndrome with several common features, including severe intellectual disability, lack of speech, hypotonia, significant growth restriction, and distinctive facial features. Overlap of the deleted regions of 13 patients, including a patient we previously reported, delineates a critical region, with PRKG2 and RASGEF1B emerging as candidate genes. Here we provide a detailed clinical report and photographic life history of our previously reported patient. Previous case reports of this new syndrome have not described the prognosis or natural history of these patients.

Original languageEnglish
Pages (from-to)2606-2609
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number10
DOIs
Publication statusPublished - Oct 2012
Externally publishedYes

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Keywords

  • 4q21syndrome
  • Chromosome deletion
  • Chromosome disorders/genetics
  • Microdeletion

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Tsang, E., Rupps, R., Mcgillivray, B., Eydoux, P., Marra, M., Arbour, L., Langlois, S., Friedman, J. M., & Zahir, F. R. (2012). Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome. American Journal of Medical Genetics, Part A, 158 A(10), 2606-2609. https://doi.org/10.1002/ajmg.a.35568