PMID- 11339382
OWN - NLM
STAT- MEDLINE
DCOM- 20010927
LR  - 20220210
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 3
IP  - 1
DP  - 2001 Jan-Feb
TI  - Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a 
      heart defect.
PG  - 65-6
AB  - PURPOSE: The incidence of 22q11.2 deletion syndrome is approximately 1 in 5,000 
      births, and accounts for 5-30% of all heart defects, making it one of the more 
      common genetic conditions in the population. METHODS: We employed fluorescence in 
      situ hybridization (FISH) to study the incidence of 22q11.2 deletions in fetuses 
      with cardiac anomalies detected on ultrasound examination. RESULTS: Of 64 cases, 
      18 had visible chromosome anomalies. FISH testing for 22q11.2 deletion was 
      performed on the remaining 46 cases, and five exhibited a 22q11.2 deletion. Three 
      of the five had de novo deletions, one was maternally inherited, and one family 
      declined testing. CONCLUSION: FISH analysis for 22q11.2 deletion should be 
      performed on all fetuses with cardiac defects (excluding hypoplastic left heart 
      and echogenic focus) and a normal G-banded karyotype.
FAU - Manji, S
AU  - Manji S
AD  - Department of Medical Genetics, Henry Ford Health System, Detroit, Michigan, USA.
FAU - Roberson, J R
AU  - Roberson JR
FAU - Wiktor, A
AU  - Wiktor A
FAU - Vats, S
AU  - Vats S
FAU - Rush, P
AU  - Rush P
FAU - Diment, S
AU  - Diment S
FAU - Van Dyke, D L
AU  - Van Dyke DL
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
SB  - IM
MH  - *Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - *Chromosome Disorders
MH  - *Chromosomes, Human, Pair 22
MH  - Female
MH  - Heart Defects, Congenital/*diagnosis/*diagnostic imaging
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - *Ultrasonography, Prenatal
EDAT- 2001/05/08 10:00
MHDA- 2001/09/28 10:01
CRDT- 2001/05/08 10:00
PHST- 2001/05/08 10:00 [pubmed]
PHST- 2001/09/28 10:01 [medline]
PHST- 2001/05/08 10:00 [entrez]
AID - S1098-3600(21)02050-5 [pii]
AID - 10.1097/00125817-200101000-00014 [doi]
PST - ppublish
SO  - Genet Med. 2001 Jan-Feb;3(1):65-6. doi: 10.1097/00125817-200101000-00014.