PMID- 10694686
OWN - NLM
STAT- MEDLINE
DCOM- 20000327
LR  - 20131121
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 20
IP  - 2
DP  - 2000 Feb
TI  - Characterization and clinical implications of marker chromosomes identified at 
      prenatal diagnosis.
PG  - 138-43
AB  - Eighteen fetuses with marker chromosomes were detected at diagnostic 
      amniocentesis in our laboratory among 15 781 amniocentesis samples. Using 
      combined approaches, conventional cytogenetics including special stain techniques 
      and fluorescence in situ hybridization (FISH), we successfully characterized 15 
      of them, which assisted subsequent genetic counselling. Six marker chromosomes 
      were of sex chromosome origin, each of which substituted a missing sex 
      chromosome, and 12 were supernumerary marker chromosomes (SMCs). Nine of the SMCs 
      were proven to be of autosomal origin. Of those autosomal SMCs, five originated 
      from chromosome 15, two from chromosome 18, one from chromosome 12 and one from 
      chromosome 1. Among 16 marker chromosomes with adequate follow-up information, 
      50% were benign including four sex chromosome markers and four autosomal markers. 
      Two thirds of de novo marker chromosomes were associated with abnormal outcomes, 
      while all inherited ones were benign regardless of their parental origin. Our 
      study demonstrated that molecular characterization of prenatal marker chromosomes 
      is of great significance in facilitating phenotype-genotype correlation.
CI  - Copyright 2000 John Wiley & Sons, Ltd.
FAU - Li, M M
AU  - Li MM
AD  - Cytogenetics laboratory, Genetics & IVF Institute, Fairfax, VA, USA. 
      Hmliu2ssmd@aol.com
FAU - Howard-Peebles, P N
AU  - Howard-Peebles PN
FAU - Killos, L D
AU  - Killos LD
FAU - Fallon, L
AU  - Fallon L
FAU - Listgarten, E
AU  - Listgarten E
FAU - Stanley, W S
AU  - Stanley WS
LA  - eng
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Genetic Markers)
RN  - 0 (RNA, Long Noncoding)
RN  - 0 (RNA, Untranslated)
RN  - 0 (Transcription Factors)
RN  - 0 (XIST non-coding RNA)
SB  - IM
MH  - *Amniocentesis
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 12
MH  - Chromosomes, Human, Pair 15
MH  - Chromosomes, Human, Pair 18
MH  - Female
MH  - *Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Isochromosomes
MH  - Male
MH  - Pregnancy
MH  - RNA, Long Noncoding
MH  - *RNA, Untranslated
MH  - Sex Chromosome Aberrations
MH  - Transcription Factors/genetics
MH  - Turner Syndrome/diagnosis/genetics
MH  - X Chromosome
EDAT- 2000/03/01 09:00
MHDA- 2000/04/01 09:00
CRDT- 2000/03/01 09:00
PHST- 2000/03/01 09:00 [pubmed]
PHST- 2000/04/01 09:00 [medline]
PHST- 2000/03/01 09:00 [entrez]
AID - 10.1002/(SICI)1097-0223(200002)20:2<138::AID-PD772>3.0.CO;2-2 [pii]
PST - ppublish
SO  - Prenat Diagn. 2000 Feb;20(2):138-43.