PMID- 11078565
OWN - NLM
STAT- MEDLINE
DCOM- 20010104
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 95
IP  - 2
DP  - 2000 Nov 13
TI  - Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome 
      with biparental methylation.
PG  - 145-9
AB  - 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::p11.2-->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.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Tekin, M
AU  - Tekin M
AD  - Department of Human Genetics, Virginia Commonwealth University/Medical College of 
      Virginia, Richmond, Virginia 23298, USA.
FAU - Jackson-Cook, C
AU  - Jackson-Cook C
FAU - Buller, A
AU  - Buller A
FAU - Ferreira-Gonzalez, A
AU  - Ferreira-Gonzalez A
FAU - Pandya, A
AU  - Pandya A
FAU - Garrett, C T
AU  - Garrett CT
FAU - Bodurtha, J
AU  - Bodurtha J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Angelman Syndrome/*diagnosis/*genetics
MH  - Cell Nucleus/genetics
MH  - Centromere/ultrastructure
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 15
MH  - *DNA Methylation
MH  - Developmental Disabilities/diagnosis/genetics
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Male
MH  - Mosaicism
MH  - Parents
MH  - Prader-Willi Syndrome/genetics
MH  - Reproducibility of Results
EDAT- 2000/11/15 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/11/15 11:00
PHST- 2000/11/15 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/11/15 11:00 [entrez]
AID - 10.1002/1096-8628(20001113)95:2<145::AID-AJMG10>3.0.CO;2-R [pii]
AID - 10.1002/1096-8628(20001113)95:2<145::aid-ajmg10>3.0.co;2-r [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Nov 13;95(2):145-9. doi: 
      10.1002/1096-8628(20001113)95:2<145::aid-ajmg10>3.0.co;2-r.