Mole maker phenotype: possible narrowing of the candidate region

Eur J Hum Genet. 2000 Aug;8(8):641-4. doi: 10.1038/sj.ejhg.5200501.


Recent data has suggested that familial recurrent hydatidiform mole is a rare autosomal recessive trait in women experiencing this gestational disease (MIM 231090). Here we provide molecular data on an additional family confirming that recurrent familial hydatidiform moles are diploid, biparental and arise from independent conceptions. A narrowing of the gene interval on chromosome 19q13.3-13.4 is suggested by haplotype analysis in two sisters.

MeSH terms

  • Adult
  • Chromosome Aberrations
  • Chromosome Disorders
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19 / genetics*
  • Family Health
  • Female
  • Genetic Linkage
  • Haplotypes
  • Homozygote
  • Humans
  • Hydatidiform Mole / genetics*
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Ploidies
  • Pregnancy
  • Sequence Tagged Sites
  • Uterine Neoplasms / genetics