Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > paternal mole

paternal mole

Wednesday 31 May 2006

Synopsis

- 69, XXX or 69, XXY
- one haploid set of maternal chromosome and two haploid sets of paternal chromosome

Mechanisms

- duplication of a spermatozoid genome after the fecondation (diandric homozygous form)
- fecondation of the ovocyte by two spermatozoids (dispermic heterozygous form)

Phenotype

- macerated fetus
- +/- hypotrophic fetus
- +/- IUGR (intra-uterine growth retardation)
- 3-4 fingers syndactyly
- 3-4 toes syndactyly
- facial dysmorphy
- voluminous placenta (placental hypertrophy)
- thick placenta
- huge placental vesicules
- pseudo-molar placenta or partial mole
- mixed appearance of normal placental villi and hydropic villi with irregular limits
- vascular slits with pycnotic erythroblasts
- placental villous edema
- placental villous cysts
- placental villous citernae
- focal and moderate trophoblastic hyperplasia (syncitiotrophoblast)
- echography: thick, multicystic placenta; big ovular cavity containing a fetus or an embryo (possible diagnosis at 1st trimester)