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Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]
Author(s) -
Sauter S.,
von Beust G.,
Burfeind P.,
Weise A.,
Starke H.,
Liehr T.,
Zoll B.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20089
Subject(s) - fluorescence in situ hybridization , karyotype , x chromosome , genetics , chromosome analysis , chromosome , in situ hybridization , epilepsy , biology , neuroscience , gene , gene expression
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. © 2003 Wiley‐Liss, Inc.