PMID- 8723059
OWN - NLM
STAT- MEDLINE
DCOM- 19961003
LR  - 20051116
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 62
IP  - 4
DP  - 1996 Apr 24
TI  - Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by 
      fluorescence in situ hybridization and review of the literature.
PG  - 330-5
AB  - We report on a newborn infant with multiple congenital anomalies and apparent 
      nonmosaic trisomy 9 in the blood (by conventional cytogenetic studies) who died 
      shortly after birth. Clinical observations at birth and autopsy are compared with 
      phenotypes of mosaic and nonmosaic trisomy 9 cases reported previously. Unlike 
      the initial cytogenetic analysis, fluorescence in situ hybridization (FISH) 
      studies of metaphase and interphase blood cells and skin fibroblasts detected the 
      presence of euploid and trisomy 9 cells. These results suggest that earlier 
      reports of trisomy 9, which relied on conventional chromosome analysis of a few 
      metaphase cells and/or only one tissue type, may not have excluded mosaicism, and 
      that trisomy 9 may be viable only in the mosaic state.
FAU - Cantu, E S
AU  - Cantu ES
AD  - Department of Pathology and Laboratory Medicine, Medical University of South 
      Carolina, Charleston 29425, USA.
FAU - Eicher, D J
AU  - Eicher DJ
FAU - Pai, G S
AU  - Pai GS
FAU - Donahue, C J
AU  - Donahue CJ
FAU - Harley, R A
AU  - Harley RA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adult
MH  - Autopsy
MH  - *Chromosomes, Human, Pair 9
MH  - Fatal Outcome
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization
MH  - Infant, Newborn
MH  - Male
MH  - *Mosaicism
MH  - *Trisomy
RF  - 39
EDAT- 1996/04/24 00:00
MHDA- 2000/06/20 09:00
CRDT- 1996/04/24 00:00
PHST- 1996/04/24 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1996/04/24 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19960424)62:4<330::AID-AJMG1>3.0.CO;2-V [pii]
AID - 10.1002/(SICI)1096-8628(19960424)62:4<330::AID-AJMG1>3.0.CO;2-V [doi]
PST - ppublish
SO  - Am J Med Genet. 1996 Apr 24;62(4):330-5. doi: 
      10.1002/(SICI)1096-8628(19960424)62:4<330::AID-AJMG1>3.0.CO;2-V.