PMID- 12001199
OWN - NLM
STAT- MEDLINE
DCOM- 20020926
LR  - 20061115
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 22
IP  - 5
DP  - 2002 May
TI  - Maternal uniparental isodisomy 10 and mosaicism for an additional marker 
      chromosome derived from the paternal chromosome 10 in a fetus.
PG  - 418-21
AB  - We report a case of maternal isodisomy 10 combined with mosaic partial trisomy 10 
      (p12.31-q11.1). Chromosome examinations from a CVS sample showed a karyotype 
      47,XX,+mar/46,XX [corrected]. The additional marker chromosome which was present 
      in 6/25 interphase nuclei was shown by fluorescence in situ hybridization (FISH) 
      to have been derived from a pericentromeric segment of chromosome 10. DNA 
      analysis was performed from umbilical cord blood from the fetus after termination 
      of the pregnancy at 18 weeks. The results showed that the two structurally normal 
      chromosomes 10 were both of maternal origin, whereas the marker chromosome 
      derived from the father. Autopsy of the fetus revealed hypoplasia of heart, 
      liver, kidneys and suprarenal glands, but, apart from a right bifid ureter, no 
      structural organ abnormalities. This fetus represents the second reported 
      instance of a maternal uniparental disomy (UPD) 10.
CI  - Copyright 2002 John Wiley & Sons, Ltd.
FAU - Schlegel, Monika
AU  - Schlegel M
AD  - Institute of Medical Genetics, University of Zurich, Switzerland.
FAU - Baumer, Alessandra
AU  - Baumer A
FAU - Riegel, Mariluce
AU  - Riegel M
FAU - Wiedemann, Ute
AU  - Wiedemann U
FAU - Schinzel, Albert
AU  - Schinzel A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Genetic Markers)
SB  - IM
EIN - Prenat Diagn 2002 Nov;22(11):1056
MH  - Abnormalities, Multiple/*genetics
MH  - Abortion, Eugenic
MH  - Adult
MH  - Chorionic Villi Sampling
MH  - Chromosome Painting
MH  - *Chromosomes, Human, Pair 10
MH  - Female
MH  - Genetic Markers
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Microsatellite Repeats
MH  - Mosaicism/*genetics
MH  - Pregnancy
MH  - Trisomy/*genetics
MH  - Twins
MH  - Uniparental Disomy/*genetics
EDAT- 2002/05/10 10:00
MHDA- 2002/09/27 06:00
CRDT- 2002/05/10 10:00
PHST- 2002/05/10 10:00 [pubmed]
PHST- 2002/09/27 06:00 [medline]
PHST- 2002/05/10 10:00 [entrez]
AID - 10.1002/pd.337 [doi]
PST - ppublish
SO  - Prenat Diagn. 2002 May;22(5):418-21. doi: 10.1002/pd.337.