PMID- 8878285
OWN - NLM
STAT- MEDLINE
DCOM- 19970117
LR  - 20041118
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 16
IP  - 8
DP  - 1996 Aug
TI  - Partial trisomy/monosomy 6q in fetal cells and CVS long-term culture not present 
      in CVS short-term culture.
PG  - 741-8
AB  - A cytogenetic discrepancy in chorionic villi with implications for prenatal 
      diagnosis is described. Chromosome analysis revealed a normal karyotype in banded 
      metaphases from short-term culture and a chromosome count of 46 in cells of the 
      long-term culture. After the birth of a malformed infant, a structurally aberrant 
      chromosome 6 was found in lymphocytes and skin fibroblasts. Re-analysis of 
      chorionic villi confirmed the result from short-term culture but disclosed the 
      presence of the structural aberration in cells of the long-term culture. This 
      type of inconsistency is reported for the first time and stresses the importance 
      of a numerical and structural analysis of both short-term and long-term culture. 
      The application of three techniques, chromosome banding, comparative genomic 
      hybridization (CGH), and fluorescence in situ hybridization (FISH) analysis, was 
      essential to prove that the derivative chromosome carried a combined partial 
      trisomy/monosomy for 6q. The findings are discussed with respect to the origin of 
      the structural aberration and to the consequences for prenatal diagnosis on 
      chorionic villi and genetic counselling.
FAU - Wegner, R D
AU  - Wegner RD
AD  - Institute of Human Genetics, Virchow Hospital, Humboldt University Berlin, 
      Germany.
FAU - Schrock, E
AU  - Schrock E
FAU - Obladen, M
AU  - Obladen M
FAU - Becker, R
AU  - Becker R
FAU - Stumm, M
AU  - Stumm M
FAU - Sperling, K
AU  - Sperling K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Cells, Cultured
MH  - *Chorionic Villi Sampling
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 6
MH  - Female
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Maternal Age
MH  - *Monosomy
MH  - Pregnancy
MH  - Pregnancy, High-Risk
MH  - Time Factors
MH  - *Trisomy
EDAT- 1996/08/01 00:00
MHDA- 2000/06/20 09:00
CRDT- 1996/08/01 00:00
PHST- 1996/08/01 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1996/08/01 00:00 [entrez]
AID - 10.1002/(SICI)1097-0223(199608)16:8<741::AID-PD931>3.0.CO;2-W [pii]
AID - 10.1002/(SICI)1097-0223(199608)16:8<741::AID-PD931>3.0.CO;2-W [doi]
PST - ppublish
SO  - Prenat Diagn. 1996 Aug;16(8):741-8. doi: 
      10.1002/(SICI)1097-0223(199608)16:8<741::AID-PD931>3.0.CO;2-W.