PMID- 23497671
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20130319
LR  - 20211021
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 6
IP  - 1
DP  - 2013 Mar 6
TI  - A rare de novo duplication of chromosome 21q22.12 --> q22.3 with other concomitant 
      deletion and duplication of small fragments in 21q associated with Down syndrome: 
      Prenatal diagnosis, molecular cytogenetic characterization.
PG  - 11
LID - 10.1186/1755-8166-6-11 [doi]
AB  - BACKGROUND: Karyotyping is considered the gold standard for the genome-wide 
      detection of genomic imbalances in prenatal diagnosis, but it has a number of 
      inherent limitations, namely the time required to culture cell and the limited 
      resolution(5 ~ 10 Mb). Although fluorescence in situ hybridization (FISH) can 
      also be used as a rapid prenatal diagnosis for common aneuploidies, it is labor 
      intensive, requires prior knowledge of the regions of interest, and can only be 
      used to diagnose one or a few genomic regions simultaneously. Array comparative 
      genomic hybridization (aCGH) can overcome the resolution, the locus-specific, and 
      the time limitations of the karyotyping and FISH techniques and is currently the 
      most powerful method for detecting chromosomal alterations in pre and postnatal 
      clinical cases. Several investigations have suggested that the aCGH testing 
      should be considered a first-tier test for the diagnosis of cytogenetic 
      aberrations in the fetus. RESULTS: This study used karyotyping, FISH, 
      sequence-tagged site (STS) analysis and aCGH to diagnose a case of de novo 
      duplication of chromosome 21q22.12 --> q22.3 with other concomitant deletion and 
      duplication of small fragments in 21q associated with Down syndrome prenatally. 
      CONCLUSIONS: FISH, aCGH and STS analysis are useful in prenatal investigation of 
      the nature of de novo alterations of small fragments of the chromosome.
FAU - Qi, Qingwei
AU  - Qi Q
AD  - Department of Obstetrics & Gynecology, Peking Union Medical College Hospital, 
      Chinese Academy of Medical Science, Peking Union Medical College, Dongdan, 
      Dongcheng District, Beijing, 100730, P, R, China. qiqingwei@163.com.
FAU - Zhou, Xiya
AU  - Zhou X
FAU - Jiang, Yulin
AU  - Jiang Y
FAU - Hao, Na
AU  - Hao N
FAU - Zhou, Jing
AU  - Zhou J
FAU - Zhang, Liang
AU  - Zhang L
LA  - eng
PT  - Case Reports
DEP - 20130306
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC3599797
EDAT- 2013/03/19 06:00
MHDA- 2013/03/19 06:01
PMCR- 2013/03/06
CRDT- 2013/03/19 06:00
PHST- 2012/11/26 00:00 [received]
PHST- 2013/01/12 00:00 [accepted]
PHST- 2013/03/19 06:00 [entrez]
PHST- 2013/03/19 06:00 [pubmed]
PHST- 2013/03/19 06:01 [medline]
PHST- 2013/03/06 00:00 [pmc-release]
AID - 1755-8166-6-11 [pii]
AID - 10.1186/1755-8166-6-11 [doi]
PST - epublish
SO  - Mol Cytogenet. 2013 Mar 6;6(1):11. doi: 10.1186/1755-8166-6-11.