PMID- 7479599
OWN - NLM
STAT- MEDLINE
DCOM- 19951207
LR  - 20190904
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 15
IP  - 8
DP  - 1995 Aug
TI  - A case of paternal uniparental disomy for chromosome 11.
PG  - 773-7
AB  - We report a case of paternal uniparental disomy for chromosome 11 that presented 
      as severe intrauterine growth retardation. Autopsy following intrauterine death 
      also revealed aberrant intestinal rotation and hypospadias. Chromosome analysis 
      of direct preparations from placental biopsy showed an abnormal 47,XY,+11 
      karyotype. Analysis of long-term cultures from the placenta revealed 
      46,XY/47,XY,+11 mosaicism. Fluorescence in situ hybridization (FISH) studies on 
      interphase nuclei confirmed trisomy 11 in multiple placental sites but detected 
      only disomic cells in fetal skin. Investigation using microsatellite 
      polymorphisms demonstrated paternal isodisomy at loci D11S909, D11S956, and 
      D11S488, and paternal heterodisomy at locus D11S928.
FAU - Webb, A
AU  - Webb A
AD  - Department of Human Genetics, University of Newcastle upon Tyne, U.K.
FAU - Beard, J
AU  - Beard J
FAU - Wright, C
AU  - Wright C
FAU - Robson, S
AU  - Robson S
FAU - Wolstenholme, J
AU  - Wolstenholme J
FAU - Goodship, J
AU  - Goodship J
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  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - *Chromosome Aberrations
MH  - *Chromosomes, Human, Pair 11
MH  - DNA/analysis
MH  - Female
MH  - Fetal Growth Retardation/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Mosaicism
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Trisomy
EDAT- 1995/08/01 00:00
MHDA- 1995/08/01 00:01
CRDT- 1995/08/01 00:00
PHST- 1995/08/01 00:00 [pubmed]
PHST- 1995/08/01 00:01 [medline]
PHST- 1995/08/01 00:00 [entrez]
AID - 10.1002/pd.1970150816 [doi]
PST - ppublish
SO  - Prenat Diagn. 1995 Aug;15(8):773-7. doi: 10.1002/pd.1970150816.