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 journalArticle

10 Citations (Scopus)

Abstract

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
Pages (from-to)145-149
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume95
Issue number2
DOIs
StatePublished - Nov 13 2000
Externally publishedYes

Fingerprint

Angelman Syndrome
Mosaicism
Fluorescence In Situ Hybridization
Methylation
snRNP Core Proteins
Lymphocytes
Chromosomes, Human, Pair 15
Cheek
Gait
Hearing Loss
Ear
Mouth
Tooth
Seizures
Head
Polymerase Chain Reaction
DNA
Infection

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation. / Tekin, Mustafa; Jackson-Cook, Colleen; Buller, Arlene; Ferreira-Gonzalez, Andrea; Pandya, Arti; Garrett, Carleton T.; Bodurtha, Joann.

In: American Journal of Medical Genetics, Vol. 95, No. 2, 13.11.2000, p. 145-149.

Research output: Contribution to journalArticle

Tekin, Mustafa ; Jackson-Cook, Colleen ; Buller, Arlene ; Ferreira-Gonzalez, Andrea ; Pandya, Arti ; Garrett, Carleton T. ; Bodurtha, Joann. / Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation. In: American Journal of Medical Genetics. 2000 ; Vol. 95, No. 2. pp. 145-149.
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