Document Detail

Cryptic duplication of 12q24.33 --> qter in a child with Angelman syndrome-simultaneous occurrence of two unrelated cytogenetic events.
MedLine Citation:
PMID:  17394213     Owner:  NLM     Status:  MEDLINE    
Simultaneous occurrence of two unrelated cytogenetic events is rare. We present a case of Angelman Syndrome (AS) deletion and 12q duplication in a child with a history of developmental delay, microcephaly, cerebral palsy, and seizures. Traditional cytogenetic studies showed a normal 46,XY karyotype. Fluorescence in situ hybridization (FISH) using probe D15S10 (AS region/15q11.2) revealed a deletion. In addition, we serendipitously detected 12q24.3 duplication by FISH with 12q subtelomere probe. He inherited this duplication from the mother who presented with a balanced translocation karyotype 46,XX,add(12)(q24.3).ish t(12;13)(q24.3;p11.2)(12qtel-;12qtel+,D13Z1/D21Z1+,RB1+). Array comparative genomic hybridization (array-CGH) revealed a duplication of three bacterial artificial chromosome (BAC) clones (RP11-46H11, RP11-386I8, and RP11-309H3) covering about 423 Kb of DNA sequence. The published 12q terminal duplication cases had a detectable segment by classical banded cytogenetics techniques. To our knowledge, this is the smallest 12q cryptic rearrangement characterized by array-CGH and confirmed by BAC-clone FISH analysis. Based on these findings, we attempted to separate the clinical features associated with AS deletion and those features that are probably due to partial 12q duplication. We then reviewed the genes mapped in the duplicated region using the human genome database to understand the clinical significance. A subsequent pregnancy in the mother revealed an apparently balanced t(12;13) karyotype. We compare our case with the published cases, and discuss the implications of our findings and its relevance in addressing genetic counseling issues.
M Sathanoori; J Hu; V Murthy; A Byrnes; J Vockley; R Safier; J Bedoyan; S M Jalal; H Huber; U Surti
Related Documents :
20101693 - Delineation of a 1.65 mb critical region for hemihyperplasia and digital anomalies on x...
20218083 - Lymphedema-distichiasis syndrome without foxc2 mutation: evidence for chromosome 16 dup...
19877833 - Localization and copy number of the protein-coding genes actin, alpha-tubulin, and hsp9...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 May 
Date Detail:
Created Date:  2007-04-30     Completed Date:  2007-07-13     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  985-94     Citation Subset:  IM    
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Angelman Syndrome / genetics*
Child, Preschool
Chromosome Banding
Chromosomes, Human, Pair 12*
Gene Duplication*
In Situ Hybridization, Fluorescence

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Modeling low-frequency fluctuation and hemodynamic response timecourse in event-related fMRI.
Next Document:  Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance.