PMID- 17849500
OWN - NLM
STAT- MEDLINE
DCOM- 20080311
LR  - 20071128
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 27
IP  - 12
DP  - 2007 Dec
TI  - Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an 
      apparently balanced translocation.
PG  - 1112-7
AB  - OBJECTIVES: Use high-resolution genome analysis to clarify the genomic integrity 
      in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3). 
      METHODS: High resolution molecular cytogenetic analyses including G-banded 
      chromosome analysis, fluorescence in situ hybridization (FISH), and 
      array-comparative genomic hybridization (CGH) were performed on cultured cells, 
      and DNA extracted from chorionic villus sample (CVS), amniotic fluid cells and 
      fetal tissue. In addition, a custom fosmid-based tiling path 9q34.3 microarray 
      with a resolution of 35-40 kb was used for array-CGH. RESULTS: GTG-banding 
      analysis showed an apparently balanced de novo translocation between the long 
      arms of chromosomes 2 and 9; t(2;9)(q11.2;q34.3). Array-CGH using a targeted 
      chromosomal microarray analysis (CMA) uncovered a submicroscopic deletion of the 
      subtelomeric region of 9q34.3 revealing the unbalanced nature of the 
      rearrangement. These results were confirmed independently by FISH. The deletion 
      was delimited to 2.7 Mb in size using the 9q34.3 fosmid-based tiling path 
      array-CGH. CONCLUSION: Array-CGH is a powerful tool for rapid detection of 
      genomic imbalances associated with microdeletion/duplication syndromes and for 
      the evaluation of de novo apparently balanced translocation to enable 
      high-resolution genomic analysis at the breakpoints. Prenatal diagnosis of 
      chromosomal rearrangements involving dosage-sensitive genomic regions is an 
      important adjuvant to prenatal care and provides more accurate information for 
      counseling and informed decision making.
CI  - Copyright (c) 2007 John Wiley & Sons, Ltd.
FAU - Simovich, Marcia J
AU  - Simovich MJ
AD  - Departments of Molecular & Human Genetics, Baylor College of Medicine, Houston, 
      TX, USA.
FAU - Yatsenko, Svetlana A
AU  - Yatsenko SA
FAU - Kang, Sung-Hae L
AU  - Kang SH
FAU - Cheung, Sau Wai
AU  - Cheung SW
FAU - Dudek, Martha E
AU  - Dudek ME
FAU - Pursley, Amber
AU  - Pursley A
FAU - Ward, Patricia A
AU  - Ward PA
FAU - Patel, Ankita
AU  - Patel A
FAU - Lupski, James R
AU  - Lupski JR
LA  - eng
GR  - HD24064/HD/NICHD NIH HHS/United States
GR  - P01 HD39420/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 9
MH  - Female
MH  - Fetus/*ultrastructure
MH  - Humans
MH  - Nucleic Acid Hybridization/*methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - *Translocation, Genetic
EDAT- 2007/09/13 09:00
MHDA- 2008/03/12 09:00
CRDT- 2007/09/13 09:00
PHST- 2007/09/13 09:00 [pubmed]
PHST- 2008/03/12 09:00 [medline]
PHST- 2007/09/13 09:00 [entrez]
AID - 10.1002/pd.1841 [doi]
PST - ppublish
SO  - Prenat Diagn. 2007 Dec;27(12):1112-7. doi: 10.1002/pd.1841.