Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Constitutional ploidy anomalies > maternal triploidy

maternal triploidy

Wednesday 31 May 2006

Definition: Triploidy resulting in digyny, caused by two haploid sets of maternal chromosomes joined to a haploid paternal set.

Mechanisms

- non expulsion of a polar globule
- duplication of ovocyte genome

Phenotype

- oligohydramnios
- severe fetoplacental hypotrophy

  • placental hypotrophy
  • severe fetal hypotrophy
    • dysharmonious fetal hypotrophy (asymetrical fetal hypotrophy)

- macrocephaly with ventriculomegaly
micrognathy
macroglossy
- 3-4 finger syndactyly
- genital malformations
- fetal adrenal hypoplasia
- placental anomalies

  • small placental villi
  • dystrophic placental villi
  • hypovascularized placental villi
  • no perivillous trophoblastic hyperplasia

- no maternal symptomatology

Diagnosis

- triploidy diagnosis

  • ploidy assessment by flow cytometry

See also

- constitutional triploidies
- paternal triploidy
- 69,XXY triploidy

Portfolio