Imperial College London
Dr Philippa C. May

Dr Philippa C. May

Faculty of Medicine, Department of Immunology and Inflammation

Visiting Researcher
 
 
 
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Contact

 

philippa.may

 
 
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Location

 

4N5Commonwealth BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Sebire:2016:10.1186/s13000-016-0471-9,
author = {Sebire, NJ and May, PC and Kaur, B and Seckl, MJ and Fisher, RA},
doi = {10.1186/s13000-016-0471-9},
journal = {Diagnostic Pathology},
title = {Abnormal Villous Morphology Mimicking a Hydatidiform Mole Associated with Paternal Trisomy of Chromosomes 3,7,8 and Unipaternal Disomy of Chromosome 11.},
url = {http://dx.doi.org/10.1186/s13000-016-0471-9},
volume = {11},
year = {2016}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - BackgroundPregnancies affected by non-molar chromosomal abnormality may sometimes demonstrate abnormal chorionic villous morphology that is similar to partial hydatidiform mole. Determination of the underlying aetiology may be difficult in such cases.Case PresentationThis report describes a case referred to the regional trophoblastic disease unit as a possible hydatidiform mole that demonstrated both villous dysmorphology and abnormal p57KIP2 expression. Molecular genotyping revealed that while most chromosomes in the villous tissue were diploid and biparental, chromosomes 3, 7 and 8 were trisomic with an additional paternally derived chromosome. In contrast chromosome 11 showed uniparental disomy of paternal origin a situation more usually associated with complete hydatidiform moles. This unusual case highlights that exceptions may occur to the general rules of both histological morphology and immunoprofile, and that these can be resolved by detailed molecular genetic investigations.ConclusionThe findings confirm that trisomic pregnancies may demonstrate morphological villous features similar to hydatidiform mole, and that loss of p57KIP2 expression occurs due to an absence of maternally transcribed genes on chromosome 11 and can therefore be independent of androgenetic complete hydatidiform mole.
AU  - Sebire,NJ
AU  - May,PC
AU  - Kaur,B
AU  - Seckl,MJ
AU  - Fisher,RA
DO  - 10.1186/s13000-016-0471-9
PY  - 2016///
SN  - 1746-1596
TI  - Abnormal Villous Morphology Mimicking a Hydatidiform Mole Associated with Paternal Trisomy of Chromosomes 3,7,8 and Unipaternal Disomy of Chromosome 11.
T2  - Diagnostic Pathology
UR  - http://dx.doi.org/10.1186/s13000-016-0471-9
UR  - http://hdl.handle.net/10044/1/29058
VL  - 11
ER  -
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