PMID- 17394213
OWN - NLM
STAT- MEDLINE
DCOM- 20070713
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 9
DP  - 2007 May 1
TI  - Cryptic duplication of 12q24.33 --> qter in a child with Angelman 
      syndrome-simultaneous occurrence of two unrelated cytogenetic events.
PG  - 985-94
AB  - 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.
FAU - Sathanoori, M
AU  - Sathanoori M
AD  - Department of Human Genetics, Graduate School of Public Health, University of 
      Pittsburgh, PA, USA.
FAU - Hu, J
AU  - Hu J
FAU - Murthy, V
AU  - Murthy V
FAU - Byrnes, A
AU  - Byrnes A
FAU - Vockley, J
AU  - Vockley J
FAU - Safier, R
AU  - Safier R
FAU - Bedoyan, J
AU  - Bedoyan J
FAU - Jalal, S M
AU  - Jalal SM
FAU - Huber, H
AU  - Huber H
FAU - Surti, U
AU  - Surti U
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Angelman Syndrome/*genetics
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 12
MH  - *Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
EDAT- 2007/03/31 09:00
MHDA- 2007/07/14 09:00
CRDT- 2007/03/31 09:00
PHST- 2007/03/31 09:00 [pubmed]
PHST- 2007/07/14 09:00 [medline]
PHST- 2007/03/31 09:00 [entrez]
AID - 10.1002/ajmg.a.31682 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 May 1;143A(9):985-94. doi: 10.1002/ajmg.a.31682.