PMID- 11113895
OWN - NLM
STAT- MEDLINE
DCOM- 20010104
LR  - 20190906
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 20
IP  - 11
DP  - 2000 Nov
TI  - Retrospective diagnosis of trisomy 15 in formalin-fixed, paraffin-embedded 
      placental tissue in a newborn girl with Prader-Willi syndrome.
PG  - 914-6
AB  - Paternal deletion of 15q11-q13 and maternal uniparental disomy (UPD) of 
      chromosome 15 are the main causes of Prader-Willi syndrome (PWS). The finding of 
      an UPD(15) is associated with increased maternal age. We present a retrospective 
      diagnosis of a trisomy 15 mosaicism confined to the placenta (CPM) after birth of 
      a girl with clinical features of PWS born to a 43-year-old mother. Chromosome 
      analysis after amniocentesis, performed because of advanced maternal age, had 
      shown a normal female karyotype. In peripheral blood cells molecular studies 
      showed the absence of the paternal allele at the SNRPN locus and fluorescence in 
      situ hybridization (FISH) analysis excluded a deletion of the SNRPN locus on both 
      chromosomes 15. Trisomic cells were detected by FISH on nuclei isolated from 
      formalin-fixed, paraffin-embedded placental tissue using a DNA-probe specific for 
      the centromeric region of chromosome 15.
CI  - Copyright 2000 John Wiley & Sons, Ltd.
FAU - Walczak, C
AU  - Walczak C
AD  - Institute of Anthropology and Human Genetics, Division of Medical Genetics, 
      University of Tubingen, Wilhelmstr. 27, 72074 Tubingen, Germany.
FAU - Enders, H
AU  - Enders H
FAU - Grissinger, K
AU  - Grissinger K
FAU - Dufke, A
AU  - Dufke A
LA  - eng
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 1HG84L3525 (Formaldehyde)
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Chromosome Aberrations
MH  - *Chromosomes, Human, Pair 15
MH  - Female
MH  - Formaldehyde
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Maternal Age
MH  - Microsatellite Repeats
MH  - Mosaicism
MH  - Paraffin Embedding
MH  - Placenta/*pathology
MH  - Prader-Willi Syndrome/*genetics/pathology
MH  - Pregnancy
MH  - Pregnancy, High-Risk
MH  - Retrospective Studies
MH  - *Trisomy
EDAT- 2000/12/13 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/12/13 11:00
PHST- 2000/12/13 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/12/13 11:00 [entrez]
AID - 10.1002/1097-0223(200011)20:11<914::AID-PD939>3.0.CO;2-6 [pii]
AID - 10.1002/1097-0223(200011)20:11<914::aid-pd939>3.0.co;2-6 [doi]
PST - ppublish
SO  - Prenat Diagn. 2000 Nov;20(11):914-6. doi: 
      10.1002/1097-0223(200011)20:11<914::aid-pd939>3.0.co;2-6.