PMID- 11850602
OWN - NLM
STAT- MEDLINE
DCOM- 20020712
LR  - 20110316
IS  - 1011-8934 (Print)
IS  - 1598-6357 (Electronic)
IS  - 1011-8934 (Linking)
VI  - 17
IP  - 1
DP  - 2002 Feb
TI  - Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 
      deletion.
PG  - 125-8
AB  - Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial 
      syndrome, congenital conotruncal heart defects, and related disorders. We report 
      our experiences on prenatal diagnosis by fluorescence in situ hybridization 
      (FISH) for 22q11 deletion in two fetuses with tetralogy of Fallot. Karyotyping 
      and FISH of the parents revealed that one fetus inherited the disease from 
      maternal microdeletion. These findings suggest the importance of performing FISH 
      in pregnancies with prenatally detected tetralogy of Fallot.
FAU - Oh, Dong Chul
AU  - Oh DC
AD  - Department of Obstetrics, Samsung Cheil Hospital Women's Healthcare Center, 
      Sungkyunkwan University School of Medicine, 1-19 Mookjeung-dong, Choong-gu, Seoul 
      100-380, Korea.
FAU - Min, Jee Yeon
AU  - Min JY
FAU - Lee, Moon Hee
AU  - Lee MH
FAU - Kim, Young Mi
AU  - Kim YM
FAU - Park, So Yeon
AU  - Park SY
FAU - Won, Hea Sung
AU  - Won HS
FAU - Kim, In Kyu
AU  - Kim IK
FAU - Lee, Young Ho
AU  - Lee YH
FAU - Yoo, Shi Joon
AU  - Yoo SJ
FAU - Ryu, Hyun Mee
AU  - Ryu HM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Korea (South)
TA  - J Korean Med Sci
JT  - Journal of Korean medical science
JID - 8703518
SB  - IM
MH  - Adult
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Echocardiography
MH  - Female
MH  - Fetal Diseases/*diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Pregnancy
MH  - *Prenatal Diagnosis/methods
MH  - Tetralogy of Fallot/*diagnosis/genetics
PMC - PMC3054817
EDAT- 2002/02/19 10:00
MHDA- 2002/07/13 10:01
PMCR- 2002/02/01
CRDT- 2002/02/19 10:00
PHST- 2002/02/19 10:00 [pubmed]
PHST- 2002/07/13 10:01 [medline]
PHST- 2002/02/19 10:00 [entrez]
PHST- 2002/02/01 00:00 [pmc-release]
AID - 200202125 [pii]
AID - 10.3346/jkms.2002.17.1.125 [doi]
PST - ppublish
SO  - J Korean Med Sci. 2002 Feb;17(1):125-8. doi: 10.3346/jkms.2002.17.1.125.