Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

Douglas R. Stewart, Alina Huang, Francesca Faravelli, Britt Marie Anderlid, Livija Medne, Karen Ciprero, Maninder Kaur, Elena Rossi, Romano Tenconi, Magnus Nordenskjöld, Karen W. Gripp, Linda Nicholson, Wendy S. Meschino, Esther Capua, Oliver W.J. Quarrell, Jonathon Flint, Mira Irons, Philip F. Giampietro, David B. Schowalter, Christina A. ZaleskiMichela Malacarne, Elaine H. Zackai, Nancy B. Spinner, Ian D. Krantz*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Fluorescent in situ hybridization (FISH) screening of subtelomeric rearrangements has resulted in the identification of previously unrecognized chromosomal causes of mental retardation with and without dysmorphic features. This article reports the phenotypic and molecular breakpoint characterization in a cohort of 12 patients with subtelomeric deletions of chromosome 9q34. The phenotypic findings are consistent amongst these individuals and consist of mental retardation, distinct facial features and congenital heart defects (primarily conotruncal defects). Detailed breakpoint mapping by FISH, microsatellite and single nucleotide polymorphism (SNP) genotyping analysis has narrowed the commonly deleted region to an approximately 1.2 Mb interval containing 14 known transcripts. The majority of the proximal deletion breakpoints fall within a 400 kb interval between SNP markers C12020842 proximally and C80658 distally suggesting a common breakpoint in this interval.

Original languageEnglish (US)
Pages (from-to)340-351
Number of pages12
JournalAmerican Journal of Medical Genetics
Volume128 A
Issue number4
StatePublished - Aug 1 2004
Externally publishedYes


  • Chromosome 9
  • Subtelomeric deletion
  • Syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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