Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation

Mustafa Tekin, Colleen Jackson-Cook, Arlene Buller, Andrea Ferreira-Gonzalez, Arti Pandya, Carleton T. Garrett, Joann Bodurtha

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


We present a child with mild to moderate global developmental delay including severe speech impairment, inappropriate happy demeanor, wide-based gait, frequent ear infections with mild hearing loss, deep-set eyes, a wide mouth, widely-spaced teeth, normal head circumference, and no seizures. Results of peripheral blood lymphocyte chromosomal analysis with GTG banding were normal. However, fluorescence in situ hybridization (FISH) studies showed mosaicism for a deletion of probes (D15S10 and SNRPN) from the Angelman syndrome (AS) critical region with approximately 40% of peripheral lymphocytes having the deletion. The deleted chromosome 15 also showed centromeric duplication, which was detected with a D15Z1 probe [46,XX, dic(15)(pter→q11.1::pll.2→q11.1::q13→qter)]. The same duplication pattern was observed in 30% of the nuclei obtained from a buccal smear. Methylation studies using polymerase chain reaction with sodium bisulfite-treated DNA demonstrated a normal biparental methylation pattern. To the best of our knowledge, this is the first case with AS and a FISH detectable deletion in a mosaic pattern. We recommend FISH studies for the detection of mosaicism in the patients with AS clinical findings even if results of the methylation studies are normal. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)145-149
Number of pages5
JournalAmerican journal of medical genetics
Issue number2
StatePublished - Nov 13 2000
Externally publishedYes


  • Angelman syndrome
  • Chromosome deletion
  • DNA methylation
  • FISH
  • Mosaicism

ASJC Scopus subject areas

  • Genetics(clinical)


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