PMID- 16240463
OWN - NLM
STAT- MEDLINE
DCOM- 20070129
LR  - 20051205
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 25
IP  - 12
DP  - 2005 Dec
TI  - Complex de novo cryptic subtelomeric rearrangements in a fetus with multiple 
      ultrasonographic abnormalities and a normal karyotype at amniocentesis.
PG  - 1142-9
AB  - OBJECTIVE: Prenatal diagnosis is usually offered to the majority of pregnancies 
      with fetal structural abnormalities detected by prenatal ultrasound; however, 
      only a small proportion show an abnormal karyotype. We wanted to detect cryptic 
      subtelomeric rearrangements (CSTR) in a fetus with multiple abnormal 
      ultrasonographic findings that revealed a normal karyotype at amniocentesis. 
      METHODS: Fetal chromosome analysis was performed from amniotic fluid cells. 
      Parental chromosome analysis was done on PHA stimulated lymphocyte cultures. For 
      fluorescence in situ hybridization (FISH) analysis, ToTelVysion multicolor DNA 
      probe mixture was used to hybridize the p and q telomeres of each chromosome. 
      RESULTS: The amniotic fluid chromosome analysis revealed an apparently normal 
      46,XY karyotype. A follow-up FISH analysis showed three apparently balanced 
      complex translocations involving (1) the chromosome 4p and 22q telomeres (2) 4q 
      and 11q telomeres and (3) 8p, 20p and 20q telomeres. Parental chromosome and 
      subtelomere FISH analysis was found to be normal. CONCLUSION: To our knowledge, 
      this is the first report of complex de novo cryptic translocations in an abnormal 
      fetus. These CSTR identified by FISH with subtelomere-specific probes are not 
      detected by other cytogenetic and/or molecular cytogenetic approaches. However, 
      to confirm the balanced nature of CSTR, array-CGH can be helpful. Further studies 
      are in progress to determine the frequency of CSTR and its significance in the 
      etiology of fetal abnormalities.
CI  - Copyright 2005 John Wiley & Sons, Ltd
FAU - Iqbal, M Anwar
AU  - Iqbal MA
AD  - Section of Cytogenetics/Molecular Genetics, Department of Pathology and 
      Laboratory Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, 
      Kingdom of Saudi Arabia. iqbal@kfshrc.edu.sa
FAU - Ramadan, Sahar
AU  - Ramadan S
FAU - Ali, Faten Al
AU  - Ali FA
FAU - Kurdi, Wesam
AU  - Kurdi W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/embryology/genetics
MH  - Adult
MH  - *Amniocentesis
MH  - Fatal Outcome
MH  - Female
MH  - Fetal Diseases/*diagnosis/genetics
MH  - *Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
MH  - Telomere/genetics
MH  - *Ultrasonography, Prenatal/methods
EDAT- 2005/10/22 09:00
MHDA- 2007/01/30 09:00
CRDT- 2005/10/22 09:00
PHST- 2005/10/22 09:00 [pubmed]
PHST- 2007/01/30 09:00 [medline]
PHST- 2005/10/22 09:00 [entrez]
AID - 10.1002/pd.1290 [doi]
PST - ppublish
SO  - Prenat Diagn. 2005 Dec;25(12):1142-9. doi: 10.1002/pd.1290.