PMID- 12884434
OWN - NLM
STAT- MEDLINE
DCOM- 20040324
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 120A
IP  - 4
DP  - 2003 Aug 1
TI  - Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> 
      p12.2)[10].
PG  - 533-6
AB  - We report on a 3-year-old boy with a moderate to severe mental retardation, 
      autistic behavior patterns, and myoclonic epilepsy of early childhood. The 
      cytogenetic analysis of blood lymphocytes revealed a deletion of chromosome 
      20pter --> p12.2 occurring as mosaicism in 8% of the analyzed metaphases: 
      46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. The deletion was confirmed by the 
      recently developed multicolor banding approach and additionally by region 
      specific fluorescence in situ hybridization (FISH) probes. To the best of our 
      knowledge, this is the first report on a patient with autistic behavior with 
      terminal 20p deletion mosaicism reported up to present.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Sauter, S
AU  - Sauter S
AD  - Institute of Human Genetics, University of Gottingen, Germany. ssauter@gwdg.de
FAU - von Beust, G
AU  - von Beust G
FAU - Burfeind, P
AU  - Burfeind P
FAU - Weise, A
AU  - Weise A
FAU - Starke, H
AU  - Starke H
FAU - Liehr, T
AU  - Liehr T
FAU - Zoll, B
AU  - Zoll B
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Autistic Disorder/*genetics
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 20
MH  - Epilepsies, Myoclonic/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Male
MH  - Mosaicism/*genetics
EDAT- 2003/07/29 05:00
MHDA- 2004/03/25 05:00
CRDT- 2003/07/29 05:00
PHST- 2003/07/29 05:00 [pubmed]
PHST- 2004/03/25 05:00 [medline]
PHST- 2003/07/29 05:00 [entrez]
AID - 10.1002/ajmg.a.20089 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Aug 1;120A(4):533-6. doi: 10.1002/ajmg.a.20089.