PMID- 9467815
OWN - NLM
STAT- MEDLINE
DCOM- 19980312
LR  - 20190905
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 17
IP  - 12
DP  - 1997 Dec
TI  - True fetal mosaicism of an isochromosome of the long arm of a chromosome 20: the 
      dilemma persists.
PG  - 1171-5
AB  - We report the prenatal findings of mos 46,XY/46,XY,i(20q) after amniocentesis. 
      The propositus presented with two epidermal scalp scars, retrobulbar orbital 
      cysts, and dyssegmentation of the thoracic spine. The abnormal cell line was 
      discovered in cells cultured from the proximal umbilical cord and--by 
      fluorescence in situ hybridization (FISH)--in interphase nuclei from buccal 
      epithelium and urinary sediment but not from the placenta, lymphocytes, or skin 
      fibroblasts.
FAU - Pfeiffer, R A
AU  - Pfeiffer RA
AD  - Institut fur Humangenetick, Erlangen, Germany.
FAU - Ulmer, R
AU  - Ulmer R
FAU - Rauch, A
AU  - Rauch A
FAU - Trautmann, U
AU  - Trautmann U
FAU - Beinder, E
AU  - Beinder E
FAU - Rupprecht, T
AU  - Rupprecht T
FAU - Mayer, U
AU  - Mayer U
FAU - Steinkirchner, B
AU  - Steinkirchner B
FAU - Wundisch, G F
AU  - Wundisch GF
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Amniotic Fluid/cytology
MH  - Biopsy
MH  - Cells, Cultured
MH  - *Chromosomes, Human, Pair 20
MH  - Female
MH  - Fetal Blood/cytology
MH  - Fetal Diseases/blood/*diagnosis/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Isochromosomes/*genetics
MH  - Karyotyping
MH  - Mosaicism/*genetics/pathology
MH  - Placenta/pathology
MH  - Pregnancy
MH  - Skin/pathology
MH  - Umbilical Cord/pathology
EDAT- 1998/02/19 04:53
MHDA- 2000/06/20 09:00
CRDT- 1998/02/19 04:53
PHST- 1998/02/19 04:53 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/02/19 04:53 [entrez]
AID - 10.1002/(SICI)1097-0223(199712)17:12<1171::AID-PD181>3.0.CO;2-K [pii]
AID - 10.1002/(sici)1097-0223(199712)17:12<1171::aid-pd181>3.0.co;2-k [doi]
PST - ppublish
SO  - Prenat Diagn. 1997 Dec;17(12):1171-5. doi: 
      10.1002/(sici)1097-0223(199712)17:12<1171::aid-pd181>3.0.co;2-k.