PMID- 20400232
OWN - NLM
STAT- MEDLINE
DCOM- 20110210
LR  - 20190221
IS  - 1618-0631 (Electronic)
IS  - 0344-0338 (Linking)
VI  - 206
IP  - 11
DP  - 2010 Nov 15
TI  - Androgenetic complete mole with trisomy 13: report of a case with microsatellite 
      genotyping and review of the literature.
PG  - 776-81
LID - 10.1016/j.prp.2010.02.013 [doi]
AB  - Hydatidiform moles are gestational diseases with abnormal development of the 
      villous trophoblast and characterized by an excess of paternal to maternal 
      genetic material. Complete moles are usually diploid and androgenetic, and are 
      thought to develop after the fertilization of an "empty ovum" by either a haploid 
      spermatozoon or two spermatozoa. We report a case of a complete mole in which 
      fluorescence in situ hybridization (FISH) incidentally disclosed trisomy 13. 
      Microsatellite genotyping showed a single allele at each of the markers tested on 
      the chorionic villi, and comparison with parental peripheral blood specimens 
      revealed that the markers were all of paternal origin. These results confirmed 
      the paternal origin of all three copies of chromosome 13, and the isodisomy for 
      each chromosome was consistent with duplication of a monospermic fertilization 
      event and subsequent non-disjunction. To the best of our knowledge, this is the 
      only case of an androgenetic complete mole with trisomy 13 described in the 
      scientific literature. We present a review of the literature and hypothesize that 
      the trisomy 13 in our case likely resulted from non-disjunction of chromosome 13.
CI  - Copyright (c) 2010 Elsevier GmbH. All rights reserved.
FAU - Dube, V
AU  - Dube V
AD  - Department of Pathology, Sunnybrook Health Sciences Centre, Toronto, Ontario, 
      Canada. valerie.dube@sunnybrook.ca
FAU - Chun, K
AU  - Chun K
FAU - Osborne, R
AU  - Osborne R
FAU - Sherman, C
AU  - Sherman C
FAU - Nofech-Mozes, S
AU  - Nofech-Mozes S
FAU - Ismiil, N
AU  - Ismiil N
FAU - Saad, R S
AU  - Saad RS
FAU - Khalifa, M A
AU  - Khalifa MA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20100418
PL  - Germany
TA  - Pathol Res Pract
JT  - Pathology, research and practice
JID - 7806109
RN  - 0 (Biomarkers, Tumor)
SB  - IM
MH  - Biomarkers, Tumor/metabolism
MH  - Chorionic Villi/metabolism/pathology
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 13
MH  - Combined Modality Therapy
MH  - Fathers
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Hydatidiform Mole/genetics/*secondary/therapy
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Microsatellite Repeats
MH  - Middle Aged
MH  - Pregnancy
MH  - Trisomy
MH  - Trisomy 13 Syndrome
MH  - Trophoblasts/metabolism/pathology
MH  - Uterine Neoplasms/genetics/*pathology/therapy
EDAT- 2010/04/20 06:00
MHDA- 2011/02/11 06:00
CRDT- 2010/04/20 06:00
PHST- 2009/07/13 00:00 [received]
PHST- 2010/02/08 00:00 [revised]
PHST- 2010/02/25 00:00 [accepted]
PHST- 2010/04/20 06:00 [entrez]
PHST- 2010/04/20 06:00 [pubmed]
PHST- 2011/02/11 06:00 [medline]
AID - S0344-0338(10)00062-2 [pii]
AID - 10.1016/j.prp.2010.02.013 [doi]
PST - ppublish
SO  - Pathol Res Pract. 2010 Nov 15;206(11):776-81. doi: 10.1016/j.prp.2010.02.013. 
      Epub 2010 Apr 18.