PMID- 10360520
OWN - NLM
STAT- MEDLINE
DCOM- 19990914
LR  - 20041117
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 19
IP  - 5
DP  - 1999 May
TI  - Prenatal diagnosis of a mosaic extra structurally abnormal chromosome by spectral 
      karyotyping.
PG  - 480-2
AB  - A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 
      per cent of cultured amniotic fluid cells from a pregnant woman. Neither 
      Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for 
      nucleolar organizer region demonstrated the presence of satellites on the ESAC. 
      Spectral karyotyping (SKY) was performed in this prenatal case and led to a quick 
      and accurate determination of the ESAC as chromosome 14 in origin. The SKY 
      finding was confirmed by conventional FISH analysis using a chromosome 14 
      specific painting probe. Subsequent hybridizations with a centromeric probe and a 
      14q subtelomeric probe were also performed to further characterize the ESAC. 
      Absence of (TTAGGG)n sequence on the ESAC, determined postnatally, suggested it 
      is a ring chromosome 14. Genetic counselling concerning these findings was 
      provided to the parents who chose to continue the pregnancy. The male infant had 
      no apparent abnormal phenotype at birth.
FAU - Ning, Y
AU  - Ning Y
AD  - Gene Care Medical Genetics Center and George Washington University, Washington, 
      DC 20037, USA. obgypn@gwumc.edu
FAU - Laundon, C H
AU  - Laundon CH
FAU - Schrock, E
AU  - Schrock E
FAU - Buchanan, P
AU  - Buchanan P
FAU - Ried, T
AU  - Ried T
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Chromosome Aberrations/*diagnosis
MH  - Chromosome Disorders
MH  - Female
MH  - Fetal Diseases/*diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping/*methods
MH  - Mosaicism/*diagnosis
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 1999/06/09 10:00
MHDA- 2000/06/20 09:00
CRDT- 1999/06/09 10:00
PHST- 1999/06/09 10:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/06/09 10:00 [entrez]
AID - 10.1002/(SICI)1097-0223(199905)19:5<480::AID-PD547>3.0.CO;2-H [pii]
PST - ppublish
SO  - Prenat Diagn. 1999 May;19(5):480-2.